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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
T P G P V L N L R P T D I T K D S V T L H W D L P L I D G G S R I T N Y I V E K R E A T R K S Y S T A T T K C H K C T Y K V T G L S E G C E Y F F R V M A E N E Y G I G E P T E T T E P V K A S E A P S P P D S L N I M D I T K S T V S L A W P K P K H D G G S K I T G Y V I E A Q R K G S D Q W T H I T T V K G L E C V V R N L T E G E E Y T F Q V M A V N S A G R S A P R E S R P V I V K E Q
T P G P V L N L R P T D I T K D S V T L H W D L P L I D G G S R I T N Y I V E K R E A T R K S Y S T A T T K C H K C T Y K V T G L S E G C E Y F F R V M A E N E Y G I G E P T E T T E P V K A S E - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
23435 1 T/K 1 None 0.4304 None gnomAD-4.0.0 2.05297E-06
23435 1 T/M 1 rs1324845938 0.4304 None gnomAD-4.0.0 8.89624E-06
23436 2 P/S 2 None 0.1242 None gnomAD-4.0.0 1.20032E-06
23437 3 G/D 3 rs1250159193 0.2249 None gnomAD-2.1.1 4.02E-06
23437 3 G/D 3 rs1250159193 0.2249 None gnomAD-4.0.0 1.59207E-06
23437 3 G/S 3 rs1448001247 0.2249 None gnomAD-2.1.1 4.02E-06
23437 3 G/S 3 rs1448001247 0.2249 None gnomAD-4.0.0 1.59196E-06
23438 4 P/L 4 None 0.3983 None gnomAD-4.0.0 1.20032E-06
23439 5 V/A 5 None 0.1177 None gnomAD-4.0.0 6.8441E-07
23441 7 N/K 7 rs751179969 0.5548 None gnomAD-2.1.1 4.02E-06
23441 7 N/K 7 rs751179969 0.5548 None gnomAD-4.0.0 6.84472E-07
23442 8 L/M 9 rs1553614105 0.2109 None gnomAD-4.0.0 1.36897E-06
23443 9 R/G 11 rs765987438 0.3107 None gnomAD-2.1.1 7.15E-06
23443 9 R/G 11 rs765987438 0.3107 None gnomAD-3.1.2 6.58E-06
23443 9 R/G 11 rs765987438 0.3107 None gnomAD-4.0.0 2.48005E-06
23443 9 R/Q 11 rs762529671 0.3107 None gnomAD-2.1.1 3.22E-05
23443 9 R/Q 11 rs762529671 0.3107 None gnomAD-3.1.2 2.63E-05
23443 9 R/Q 11 rs762529671 0.3107 None gnomAD-4.0.0 3.22414E-05
23443 9 R/W 11 rs765987438 0.3107 None gnomAD-2.1.1 7.15E-06
23443 9 R/W 11 rs765987438 0.3107 None gnomAD-3.1.2 6.58E-06
23443 9 R/W 11 rs765987438 0.3107 None gnomAD-4.0.0 3.10006E-06
23444 10 P/R 12 rs1325284144 0.3996 None gnomAD-3.1.2 6.58E-06
23444 10 P/R 12 rs1325284144 0.3996 None gnomAD-4.0.0 5.12919E-06
23445 11 T/A 13 rs1216746795 0.2696 None gnomAD-4.0.0 6.00161E-06
23445 11 T/I 13 rs750009240 0.2696 None gnomAD-2.1.1 1.61E-05
23445 11 T/I 13 rs750009240 0.2696 None gnomAD-4.0.0 6.37119E-06
23446 12 D/A 14 None 0.5352 None gnomAD-4.0.0 1.20032E-06
23446 12 D/N 14 rs1290459779 0.5352 None gnomAD-2.1.1 4.02E-06
23446 12 D/N 14 rs1290459779 0.5352 None gnomAD-4.0.0 1.59285E-06
23447 13 I/M 15 rs1213801020 0.3576 None gnomAD-2.1.1 4.02E-06
23447 13 I/M 15 rs1213801020 0.3576 None gnomAD-4.0.0 4.10714E-06
23447 13 I/V 15 None 0.3576 None gnomAD-4.0.0 1.20032E-06
23448 14 T/A 16 None 0.2432 None gnomAD-4.0.0 1.59277E-06
23448 14 T/R 16 None 0.2432 None gnomAD-4.0.0 1.59278E-06
23449 15 K/N 17 rs957102264 0.2456 None gnomAD-4.0.0 1.20032E-06
23451 17 S/R 19 rs754456949 0.1207 None gnomAD-3.1.2 6.58E-06
23451 17 S/R 19 rs754456949 0.1207 None gnomAD-4.0.0 6.57834E-06
23451 17 S/T 19 rs1339742394 0.1207 None gnomAD-2.1.1 4.02E-06
23451 17 S/T 19 rs1339742394 0.1207 None gnomAD-4.0.0 3.18474E-06
23452 18 V/I 20 None 0.0974 None gnomAD-4.0.0 1.20032E-06
23453 19 T/I 21 rs1435352674 0.1395 None gnomAD-2.1.1 4.02E-06
23453 19 T/I 21 rs1435352674 0.1395 None gnomAD-4.0.0 1.59201E-06
23453 19 T/N 21 None 0.1395 None gnomAD-4.0.0 3.18402E-06
23457 23 D/N 25 None 0.3212 None gnomAD-4.0.0 1.20032E-06
23457 23 D/V 25 rs535816123 0.3212 None gnomAD-2.1.1 2.82E-05
23457 23 D/V 25 rs535816123 0.3212 None gnomAD-3.1.2 1.32E-05
23457 23 D/V 25 rs535816123 0.3212 None 1000 genomes 1.99681E-04
23457 23 D/V 25 rs535816123 0.3212 None gnomAD-4.0.0 1.53793E-05
23458 24 L/F 26 rs1709865828 0.7776 None gnomAD-4.0.0 1.5919E-06
23459 25 P/L 27 rs776457502 0.1864 None gnomAD-2.1.1 4.02E-06
23459 25 P/L 27 rs776457502 0.1864 None gnomAD-4.0.0 4.79033E-06
23460 26 L/R 28 rs879027466 0.9596 None gnomAD-3.1.2 1.97E-05
23460 26 L/R 28 rs879027466 0.9596 None gnomAD-4.0.0 5.12638E-06
23461 27 I/M 29 None 0.7690 None gnomAD-4.0.0 1.59186E-06
23461 27 I/R 29 rs775762472 0.7690 None gnomAD-2.1.1 4.02E-06
23461 27 I/R 29 rs775762472 0.7690 None gnomAD-4.0.0 1.59189E-06
23461 27 I/V 29 rs1170300318 0.7690 None gnomAD-2.1.1 4.02E-06
23461 27 I/V 29 rs1170300318 0.7690 None gnomAD-4.0.0 3.18369E-06
23462 28 D/N 30 None 0.3442 None gnomAD-4.0.0 1.36861E-06
23463 29 G/A 31 rs745946955 0.2601 None gnomAD-2.1.1 4.02E-06
23463 29 G/A 31 rs745946955 0.2601 None gnomAD-4.0.0 1.59179E-06
23464 30 G/A 32 None 0.5475 None gnomAD-4.0.0 1.36861E-06
23464 30 G/D 32 rs549938348 0.5475 None 1000 genomes 1.99681E-04
23464 30 G/D 32 rs549938348 0.5475 None gnomAD-4.0.0 6.84303E-07
23464 30 G/R 32 None 0.5475 None gnomAD-4.0.0 1.20032E-06
23464 30 G/V 32 rs549938348 0.5475 None gnomAD-2.1.1 4.02E-06
23464 30 G/V 32 rs549938348 0.5475 None gnomAD-3.1.2 1.32E-05
23464 30 G/V 32 rs549938348 0.5475 None gnomAD-4.0.0 6.81791E-06
23466 32 R/C 34 rs749744742 0.8498 None gnomAD-2.1.1 1.07E-05
23466 32 R/C 34 rs749744742 0.8498 None gnomAD-3.1.2 1.97E-05
23466 32 R/C 34 rs749744742 0.8498 None gnomAD-4.0.0 8.67778E-06
23466 32 R/G 34 None 0.8498 None gnomAD-4.0.0 6.84309E-07
23466 32 R/H 34 rs1193026411 0.8498 None gnomAD-2.1.1 8.05E-06
23466 32 R/H 34 rs1193026411 0.8498 None gnomAD-4.0.0 1.0949E-05
23466 32 R/P 34 None 0.8498 None gnomAD-4.0.0 6.84315E-07
23466 32 R/S 34 rs749744742 0.8498 None gnomAD-4.0.0 1.36862E-06
23467 33 I/M 35 None 0.2095 None gnomAD-4.0.0 1.59181E-06
23467 33 I/T 35 rs778170654 0.2095 None gnomAD-2.1.1 4.02E-06
23467 33 I/V 35 rs866974760 0.2095 None gnomAD-4.0.0 2.05293E-06
23468 34 T/K 36 None 0.3628 None gnomAD-4.0.0 1.59179E-06
23470 36 Y/C 38 rs750891099 0.1362 None gnomAD-2.1.1 4.03E-06
23470 36 Y/C 38 rs750891099 0.1362 None gnomAD-4.0.0 1.84762E-05
23470 36 Y/D 38 rs753051564 0.1362 None gnomAD-2.1.1 4.03E-06
23470 36 Y/D 38 rs753051564 0.1362 None gnomAD-4.0.0 1.59176E-06
23471 37 I/M 39 rs764793576 0.1977 None gnomAD-2.1.1 4.03E-06
23471 37 I/T 39 rs1475765674 0.1977 None gnomAD-3.1.2 6.58E-06
23471 37 I/T 39 rs1475765674 0.1977 None gnomAD-4.0.0 4.33881E-06
23471 37 I/V 39 None 0.1977 None gnomAD-4.0.0 1.20033E-06
23472 38 V/I 40 rs556399127 0.1037 None gnomAD-2.1.1 4.03E-06
23472 38 V/I 40 rs556399127 0.1037 None gnomAD-4.0.0 3.18349E-06
23473 39 E/Q 41 None 0.1190 None gnomAD-4.0.0 1.59176E-06
23474 40 K/E 42 None 0.2230 None gnomAD-4.0.0 1.59175E-06
23475 41 R/C 43 rs761442543 0.1016 None gnomAD-2.1.1 2.5E-05
23475 41 R/C 43 rs761442543 0.1016 None gnomAD-3.1.2 3.29E-05
23475 41 R/C 43 rs761442543 0.1016 None gnomAD-4.0.0 2.66528E-05
23475 41 R/H 43 rs370257707 0.1016 None gnomAD-2.1.1 3.22E-05
23475 41 R/H 43 rs370257707 0.1016 None gnomAD-3.1.2 3.95E-05
23475 41 R/H 43 rs370257707 0.1016 None gnomAD-4.0.0 7.37575E-05
23477 43 A/E 50 None 0.2351 None gnomAD-4.0.0 1.20032E-06
23477 43 A/T 50 rs763988813 0.2351 None gnomAD-2.1.1 2.01E-05
23477 43 A/T 50 rs763988813 0.2351 None gnomAD-4.0.0 8.21163E-06
23479 45 R/Q 60 rs140127488 0.4744 None gnomAD-2.1.1 1.21E-05
23479 45 R/Q 60 rs140127488 0.4744 None gnomAD-3.1.2 6.58E-06
23479 45 R/Q 60 rs140127488 0.4744 None 1000 genomes 1.99681E-04
23479 45 R/Q 60 rs140127488 0.4744 None gnomAD-4.0.0 1.54944E-05
23479 45 R/W 60 rs760509116 0.4744 None gnomAD-2.1.1 6.08E-05
23479 45 R/W 60 rs760509116 0.4744 None gnomAD-3.1.2 3.29E-05
23479 45 R/W 60 rs760509116 0.4744 None gnomAD-4.0.0 3.09884E-05
23480 46 K/Q 63 None 1.0531 None gnomAD-4.0.0 1.59177E-06
23482 48 Y/F 65 None 0.2129 None gnomAD-4.0.0 2.40064E-06
23483 49 S/Y 66 None 0.3722 None gnomAD-4.0.0 1.59171E-06
23484 50 T/K 67 rs1178437079 0.4494 None gnomAD-2.1.1 4.02E-06
23484 50 T/K 67 rs1178437079 0.4494 None gnomAD-4.0.0 6.84284E-07
23484 50 T/R 67 None 0.4494 None gnomAD-4.0.0 6.84284E-07
23485 51 A/D 68 None 0.2294 None gnomAD-4.0.0 2.40064E-06
23486 52 T/I 69 rs774575929 0.1506 None gnomAD-2.1.1 8.05E-06
23486 52 T/I 69 rs774575929 0.1506 None gnomAD-4.0.0 2.05284E-06
23487 53 T/I 70 None 0.5154 None gnomAD-4.0.0 2.73715E-06
23487 53 T/S 70 None 0.5154 None gnomAD-4.0.0 6.84287E-07
23488 54 K/E 75 None 0.8058 None gnomAD-4.0.0 1.36858E-06
23488 54 K/R 75 None 0.8058 None gnomAD-4.0.0 1.20032E-06
23489 55 C/F 77 None 0.1026 None gnomAD-4.0.0 3.42146E-06
23489 55 C/S 77 rs1471554561 0.1026 None gnomAD-2.1.1 4.02E-06
23490 56 H/D 83 rs1397554911 0.7158 None gnomAD-3.1.2 6.58E-06
23490 56 H/D 83 rs1397554911 0.7158 None gnomAD-4.0.0 3.84475E-06
23493 59 T/I 90 None 0.3055 None gnomAD-4.0.0 6.00161E-06
23493 59 T/S 90 rs375675901 0.3055 None gnomAD-3.1.2 2.63E-05
23493 59 T/S 90 rs375675901 0.3055 None gnomAD-4.0.0 7.43708E-06
23494 60 Y/H 91 rs72646888 0.2682 None gnomAD-4.0.0 6.84286E-06
23494 60 Y/N 91 None 0.2682 None gnomAD-4.0.0 6.84286E-07
23495 61 K/E 92 None 0.3094 None gnomAD-4.0.0 3.18337E-06
23495 61 K/N 92 rs1482776876 0.3094 None gnomAD-2.1.1 2.01E-05
23495 61 K/N 92 rs1482776876 0.3094 None gnomAD-4.0.0 1.437E-05
23496 62 V/L 93 None 0.1356 None gnomAD-4.0.0 1.20032E-06
23497 63 T/I 94 None 0.5560 None gnomAD-4.0.0 1.5917E-06
23498 64 G/D 96 rs770261949 0.4286 None gnomAD-2.1.1 4.02E-06
23498 64 G/S 96 rs370771532 0.4286 None gnomAD-2.1.1 2.32246E-04
23498 64 G/S 96 rs370771532 0.4286 None gnomAD-3.1.2 2.43328E-04
23498 64 G/S 96 rs370771532 0.4286 None gnomAD-4.0.0 1.80983E-04
23499 65 L/F 97 rs75626265 0.1376 None gnomAD-4.0.0 6.37414E-05
23499 65 L/S 97 None 0.1376 None gnomAD-4.0.0 1.20032E-06
23500 66 S/C 98 rs774745687 0.4251 None gnomAD-4.0.0 3.1837E-06
23500 66 S/T 98 None 0.4251 None gnomAD-4.0.0 1.20032E-06
23501 67 E/K 99 rs1709809170 0.3404 None gnomAD-4.0.0 4.77544E-06
23502 68 G/A 100 rs755417099 0.2447 None gnomAD-4.0.0 1.59176E-06
23502 68 G/E 100 rs755417099 0.2447 None gnomAD-2.1.1 1.21E-05
23502 68 G/E 100 rs755417099 0.2447 None gnomAD-4.0.0 4.77529E-06
23502 68 G/R 100 rs781343586 0.2447 None gnomAD-2.1.1 8.05E-06
23502 68 G/R 100 rs781343586 0.2447 None gnomAD-4.0.0 4.77529E-06
23503 69 C/G 102 rs778748283 0.2484 None gnomAD-4.0.0 2.28268E-03
23503 69 C/Y 102 rs1466729716 0.2484 None gnomAD-2.1.1 4.03E-06
23503 69 C/Y 102 rs1466729716 0.2484 None gnomAD-4.0.0 1.59172E-06
23504 70 E/D 103 None 0.4526 None gnomAD-4.0.0 6.84291E-07
23504 70 E/Q 103 rs1362847983 0.4526 None gnomAD-2.1.1 3.19E-05
23504 70 E/Q 103 rs1362847983 0.4526 None gnomAD-3.1.2 6.57E-06
23504 70 E/Q 103 rs1362847983 0.4526 None gnomAD-4.0.0 5.07505E-06
23505 71 Y/D 104 None 0.0971 None gnomAD-4.0.0 1.20032E-06
23506 72 F/L 105 rs753350142 0.1640 None gnomAD-2.1.1 4.02E-06
23506 72 F/L 105 rs753350142 0.1640 None gnomAD-4.0.0 1.59165E-06
23507 73 F/L 106 rs764286640 0.1233 None gnomAD-2.1.1 4.02E-06
23507 73 F/L 106 rs764286640 0.1233 None gnomAD-4.0.0 3.18322E-06
23508 74 R/G 107 rs1709797711 0.2083 None gnomAD-3.1.2 6.57E-06
23508 74 R/G 107 rs1709797711 0.2083 None gnomAD-4.0.0 6.57358E-06
23508 74 R/I 107 rs1414118885 0.2083 None gnomAD-2.1.1 4.02E-06
23508 74 R/I 107 rs1414118885 0.2083 None gnomAD-4.0.0 2.73711E-06
23509 75 V/E 108 rs926271333 0.0932 None gnomAD-4.0.0 6.8427E-07
23509 75 V/G 108 rs926271333 0.0932 None gnomAD-4.0.0 6.8427E-07
23510 76 M/I 109 rs727503569 0.1250 None gnomAD-3.1.2 6.58E-06
23510 76 M/I 109 rs727503569 0.1250 None gnomAD-4.0.0 3.71861E-06
23510 76 M/T 109 None 0.1250 None gnomAD-4.0.0 1.20032E-06
23510 76 M/V 109 None 0.1250 None gnomAD-4.0.0 1.36852E-06
23511 77 A/G 110 rs1709793052 0.1199 None gnomAD-4.0.0 5.4741E-06
23511 77 A/T 110 rs1423033072 0.1199 None gnomAD-2.1.1 4.02E-06
23511 77 A/T 110 rs1423033072 0.1199 None gnomAD-4.0.0 1.59158E-06
23512 78 E/D 111 None 0.2582 None gnomAD-4.0.0 1.20032E-06
23512 78 E/G 111 None 0.2582 None gnomAD-4.0.0 1.59157E-06
23512 78 E/K 111 rs752696466 0.2582 None gnomAD-2.1.1 4.02E-06
23512 78 E/K 111 rs752696466 0.2582 None gnomAD-4.0.0 1.59154E-06
23513 79 N/S 112 rs1553613561 0.1060 None gnomAD-4.0.0 2.05278E-06
23514 80 E/K 113 None 0.3952 None gnomAD-4.0.0 6.84261E-07
23515 81 Y/C 114 None 0.5851 None gnomAD-4.0.0 8.89535E-06
23515 81 Y/D 114 None 0.5851 None gnomAD-4.0.0 1.59154E-06
23518 84 G/A 118 None 0.1548 None gnomAD-4.0.0 1.59154E-06
23519 85 E/K 119 rs1267057579 0.5338 None gnomAD-2.1.1 4.02E-06
23519 85 E/K 119 rs1267057579 0.5338 None gnomAD-4.0.0 2.05277E-06
23520 86 P/L 120 rs763169614 0.4580 None gnomAD-2.1.1 1.21E-05
23520 86 P/L 120 rs763169614 0.4580 None gnomAD-4.0.0 1.98434E-05
23520 86 P/R 120 rs763169614 0.4580 None gnomAD-2.1.1 3.19E-05
23520 86 P/R 120 rs763169614 0.4580 None gnomAD-3.1.2 6.58E-06
23520 86 P/R 120 rs763169614 0.4580 None gnomAD-4.0.0 6.57912E-06
23520 86 P/T 120 rs1296805014 0.4580 None gnomAD-2.1.1 3.19E-05
23520 86 P/T 120 rs1296805014 0.4580 None gnomAD-3.1.2 6.58E-06
23520 86 P/T 120 rs1296805014 0.4580 None gnomAD-4.0.0 6.57756E-06
23521 87 T/I 121 rs775589244 0.2299 None gnomAD-2.1.1 4.02E-06
23521 87 T/I 121 rs775589244 0.2299 None gnomAD-4.0.0 6.84256E-07
23521 87 T/P 121 rs1007385866 0.2299 None gnomAD-3.1.2 6.57E-06
23521 87 T/P 121 rs1007385866 0.2299 None gnomAD-4.0.0 6.5735E-06
23521 87 T/R 121 rs775589244 0.2299 None gnomAD-2.1.1 3.22E-05
23521 87 T/R 121 rs775589244 0.2299 None gnomAD-3.1.2 1.32E-05
23521 87 T/R 121 rs775589244 0.2299 None gnomAD-4.0.0 1.73537E-05
23522 88 E/K 122 rs561586925 0.2490 None gnomAD-2.1.1 2.41E-05
23522 88 E/K 122 rs561586925 0.2490 None gnomAD-3.1.2 1.97E-05
23522 88 E/K 122 rs561586925 0.2490 None 1000 genomes 1.99681E-04
23522 88 E/K 122 rs561586925 0.2490 None gnomAD-4.0.0 7.43646E-06
23524 90 T/A 124 rs369526268 0.8640 None gnomAD-2.1.1 2.82E-05
23524 90 T/A 124 rs369526268 0.8640 None gnomAD-3.1.2 4.6E-05
23524 90 T/A 124 rs369526268 0.8640 None gnomAD-4.0.0 5.57772E-05
23524 90 T/K 124 rs748544908 0.8640 None gnomAD-2.1.1 4.02E-06
23524 90 T/K 124 rs748544908 0.8640 None gnomAD-4.0.0 6.84257E-07
23524 90 T/R 124 None 0.8640 None gnomAD-4.0.0 6.84257E-07
23525 91 E/G 125 rs1709774465 0.5625 None gnomAD-4.0.0 1.59151E-06
23527 93 V/I 127 rs542004766 0.2172 None gnomAD-2.1.1 4.64E-05
23527 93 V/I 127 rs542004766 0.2172 None gnomAD-3.1.2 5.92E-05
23527 93 V/I 127 rs542004766 0.2172 None 1000 genomes 1.99681E-04
23527 93 V/I 127 rs542004766 0.2172 None gnomAD-4.0.0 2.60283E-05
23527 93 V/L 127 rs542004766 0.2172 None gnomAD-2.1.1 4.02E-06
23527 93 V/L 127 rs542004766 0.2172 None gnomAD-3.1.2 6.58E-06
23527 93 V/L 127 rs542004766 0.2172 None gnomAD-4.0.0 2.47907E-06
23528 94 K/N 129 None 0.2439 None gnomAD-4.0.0 1.59151E-06
23529 95 A/V 130 rs1709769243 0.0813 None gnomAD-4.0.0 2.73701E-06
23531 97 E/K 132 rs1182129747 0.2900 None gnomAD-3.1.2 6.57E-06
23531 97 E/K 132 rs1182129747 0.2900 None gnomAD-4.0.0 2.03004E-06