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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
P S F V T K P G S K D V L P G S A V C L K S T F Q G S T P L T I R W F K G N K E L V S G G S C Y I T K E A L E S S L E L Y L V K T S D S G T Y T C K V S N V A G G V E C S A N L F V

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
5450 1 P/A 1 rs763896243 0.2212 None gnomAD-2.1.1 4.41E-06
5450 1 P/A 1 rs763896243 0.2212 None gnomAD-4.0.0 1.39204E-06
5450 1 P/S 1 None 0.2212 None gnomAD-4.0.0 6.96022E-07
5451 2 S/C 2 None 0.3505 None gnomAD-4.0.0 4.87252E-06
5451 2 S/G 2 rs760722200 0.3505 None gnomAD-2.1.1 1.94E-05
5451 2 S/G 2 rs760722200 0.3505 None gnomAD-3.1.2 2.63E-05
5451 2 S/G 2 rs760722200 0.3505 None gnomAD-4.0.0 2.70654E-05
5451 2 S/N 2 rs1365352148 0.3505 None gnomAD-2.1.1 4.42E-06
5451 2 S/N 2 rs1365352148 0.3505 None gnomAD-4.0.0 6.96205E-07
5452 3 F/V 3 None 0.2139 None gnomAD-4.0.0 1.64863E-06
5455 6 K/E 7 None 0.5792 None gnomAD-4.0.0 3.26803E-06
5456 7 P/A 8 None 0.2044 None gnomAD-4.0.0 2.07547E-06
5456 7 P/L 8 rs876658041 0.2044 None gnomAD-2.1.1 4.27E-06
5456 7 P/L 8 rs876658041 0.2044 None gnomAD-4.0.0 1.63298E-06
5457 8 G/S 9 rs774425875 0.4375 None gnomAD-2.1.1 2.25E-05
5457 8 G/S 9 rs774425875 0.4375 None gnomAD-4.0.0 1.38304E-05
5457 8 G/V 9 rs879144126 0.4375 None gnomAD-2.1.1 4.24E-06
5457 8 G/V 9 rs879144126 0.4375 None gnomAD-3.1.2 1.97E-05
5457 8 G/V 9 rs879144126 0.4375 None gnomAD-4.0.0 1.12575E-05
5460 11 D/G 14 None 0.6700 None gnomAD-4.0.0 1.62005E-06
5460 11 D/N 14 rs771075704 0.6700 None gnomAD-2.1.1 4.2E-06
5460 11 D/N 14 rs771075704 0.6700 None gnomAD-4.0.0 1.62156E-06
5461 12 V/A 16 None 0.1951 None gnomAD-4.0.0 1.20032E-06
5461 12 V/I 16 rs749477796 0.1951 None gnomAD-2.1.1 4.18E-06
5461 12 V/I 16 rs749477796 0.1951 None gnomAD-4.0.0 3.44203E-06
5462 13 L/P 18 None 0.7411 None gnomAD-4.0.0 1.37563E-06
5462 13 L/Q 18 rs778031659 0.7411 None gnomAD-2.1.1 4.16E-06
5462 13 L/Q 18 rs778031659 0.7411 None gnomAD-4.0.0 6.87817E-07
5463 14 P/S 23 rs748705824 0.4461 None gnomAD-2.1.1 4.14E-06
5463 14 P/S 23 rs748705824 0.4461 None gnomAD-4.0.0 1.37516E-06
5463 14 P/T 23 rs748705824 0.4461 None gnomAD-2.1.1 8.28E-06
5463 14 P/T 23 rs748705824 0.4461 None gnomAD-4.0.0 1.37516E-06
5464 15 G/A 24 rs377023302 0.2864 None gnomAD-2.1.1 8.77E-05
5464 15 G/A 24 rs377023302 0.2864 None gnomAD-3.1.2 4.6E-05
5464 15 G/A 24 rs377023302 0.2864 None 1000 genomes 1.99681E-04
5464 15 G/A 24 rs377023302 0.2864 None gnomAD-4.0.0 3.48483E-05
5464 15 G/D 24 None 0.2864 None gnomAD-4.0.0 2.06217E-06
5464 15 G/S 24 rs2080761564 0.2864 None gnomAD-4.0.0 1.60876E-06
5464 15 G/V 24 rs377023302 0.2864 None gnomAD-2.1.1 4.13E-06
5464 15 G/V 24 rs377023302 0.2864 None gnomAD-4.0.0 6.8739E-07
5466 17 A/T 26 None 0.4545 None gnomAD-4.0.0 1.37218E-06
5467 18 V/F 28 None 0.1843 None gnomAD-4.0.0 1.59912E-06
5468 19 C/S 29 rs1294705818 0.2614 None gnomAD-2.1.1 4.07E-06
5468 19 C/S 29 rs1294705818 0.2614 None gnomAD-3.1.2 1.31E-05
5468 19 C/S 29 rs1294705818 0.2614 None gnomAD-4.0.0 6.42125E-06
5468 19 C/W 29 rs944088736 0.2614 None gnomAD-2.1.1 4.06E-06
5468 19 C/W 29 rs944088736 0.2614 None gnomAD-4.0.0 1.596E-06
5471 22 S/G 33 rs757968547 0.0944 None gnomAD-2.1.1 4.05E-06
5471 22 S/G 33 rs757968547 0.0944 None gnomAD-4.0.0 3.18946E-06
5471 22 S/N 33 rs749906091 0.0944 None gnomAD-2.1.1 4.05E-06
5471 22 S/N 33 rs749906091 0.0944 None gnomAD-4.0.0 4.78435E-06
5472 23 T/I 34 rs911246876 0.2280 None gnomAD-4.0.0 1.59357E-06
5472 23 T/S 34 rs911246876 0.2280 None gnomAD-4.0.0 1.59357E-06
5474 25 Q/K 38 rs1462774944 0.5515 None gnomAD-2.1.1 3.19E-05
5474 25 Q/K 38 rs1462774944 0.5515 None gnomAD-3.1.2 6.58E-06
5474 25 Q/K 38 rs1462774944 0.5515 None gnomAD-4.0.0 1.86017E-06
5474 25 Q/R 38 None 0.5515 None gnomAD-4.0.0 1.20032E-06
5475 26 G/R 40 rs1232661197 0.4085 None gnomAD-4.0.0 2.40065E-06
5475 26 G/V 40 None 0.4085 None gnomAD-4.0.0 1.36899E-06
5476 27 S/T 41 None 0.7254 None gnomAD-4.0.0 8.40227E-06
5476 27 S/Y 41 None 0.7254 None gnomAD-4.0.0 1.59239E-06
5477 28 T/I 42 rs2080755955 0.6591 None gnomAD-3.1.2 6.57E-06
5477 28 T/I 42 rs2080755955 0.6591 None gnomAD-4.0.0 1.23974E-06
5477 28 T/P 42 rs756878354 0.6591 None gnomAD-2.1.1 4.04E-06
5477 28 T/P 42 rs756878354 0.6591 None gnomAD-3.1.2 6.59E-06
5477 28 T/P 42 rs756878354 0.6591 None gnomAD-4.0.0 6.58605E-06
5478 29 P/L 43 rs1391157831 0.8105 None gnomAD-2.1.1 4.04E-06
5478 29 P/L 43 rs1391157831 0.8105 None gnomAD-4.0.0 1.59225E-06
5478 29 P/S 43 rs1302659663 0.8105 None gnomAD-2.1.1 8.07E-06
5478 29 P/S 43 rs1302659663 0.8105 None gnomAD-4.0.0 2.05318E-06
5480 31 T/K 45 rs753485630 0.4878 None gnomAD-2.1.1 4.84E-05
5480 31 T/K 45 rs753485630 0.4878 None gnomAD-4.0.0 1.27344E-05
5480 31 T/R 45 None 0.4878 None gnomAD-4.0.0 1.59179E-06
5481 32 I/F 46 None 0.1405 None gnomAD-4.0.0 1.59175E-06
5482 33 R/G 47 rs1261601154 0.4436 None gnomAD-3.1.2 6.57E-06
5482 33 R/G 47 rs1261601154 0.4436 None gnomAD-4.0.0 2.47918E-06
5483 34 W/R 48 rs72648938 0.1244 None gnomAD-4.0.0 1.36861E-06
5486 37 G/D 51 None 0.3700 None gnomAD-4.0.0 2.40064E-06
5486 37 G/S 51 rs1430669284 0.3700 None gnomAD-2.1.1 4.03E-06
5486 37 G/S 51 rs1430669284 0.3700 None gnomAD-4.0.0 1.36856E-06
5487 38 N/D 52 None 1.0794 None gnomAD-4.0.0 6.8426E-07
5487 38 N/H 52 rs2080751190 1.0794 None gnomAD-3.1.2 6.57E-06
5487 38 N/H 52 rs2080751190 1.0794 None gnomAD-4.0.0 1.23951E-06
5487 38 N/K 52 None 1.0794 None gnomAD-4.0.0 1.59156E-06
5487 38 N/S 52 rs2080750786 1.0794 None gnomAD-3.1.2 1.31E-05
5487 38 N/S 52 rs2080750786 1.0794 None gnomAD-4.0.0 3.84387E-06
5488 39 K/E 55 None 0.7476 None gnomAD-4.0.0 3.18307E-06
5488 39 K/N 55 rs760521859 0.7476 None gnomAD-2.1.1 5.24E-05
5488 39 K/N 55 rs760521859 0.7476 None gnomAD-3.1.2 1.97E-05
5488 39 K/N 55 rs760521859 0.7476 None gnomAD-4.0.0 1.17751E-05
5488 39 K/R 55 None 0.7476 None gnomAD-4.0.0 1.59155E-06
5489 40 E/D 56 None 0.2719 None gnomAD-4.0.0 6.84254E-07
5489 40 E/K 56 rs1171851091 0.2719 None gnomAD-2.1.1 4.03E-06
5490 41 L/P 58 None 0.2089 None gnomAD-4.0.0 2.40064E-06
5490 41 L/V 58 None 0.2089 None gnomAD-4.0.0 6.84262E-07
5491 42 V/A 59 None 0.8157 None gnomAD-4.0.0 1.20032E-06
5491 42 V/L 59 rs1460594860 0.8157 None gnomAD-2.1.1 4.03E-06
5491 42 V/L 59 rs1460594860 0.8157 None gnomAD-3.1.2 1.31E-05
5491 42 V/L 59 rs1460594860 0.8157 None gnomAD-4.0.0 6.40567E-06
5492 43 S/F 70 rs1162269961 0.4094 None gnomAD-3.1.2 6.58E-06
5492 43 S/F 70 rs1162269961 0.4094 None gnomAD-4.0.0 2.56274E-06
5492 43 S/P 70 None 0.4094 None gnomAD-4.0.0 2.40064E-06
5493 44 G/D 73 rs1418252439 0.4092 None gnomAD-2.1.1 4.03E-06
5493 44 G/D 73 rs1418252439 0.4092 None gnomAD-3.1.2 1.97E-05
5493 44 G/D 73 rs1418252439 0.4092 None gnomAD-4.0.0 4.06003E-06
5493 44 G/S 73 rs377042940 0.4092 None gnomAD-2.1.1 1.03706E-04
5493 44 G/S 73 rs377042940 0.4092 None gnomAD-3.1.2 2.36777E-04
5493 44 G/S 73 rs377042940 0.4092 None 1000 genomes 3.99361E-04
5493 44 G/S 73 rs377042940 0.4092 None gnomAD-4.0.0 4.27613E-05
5494 45 G/R 102 rs727504697 0.6374 None gnomAD-2.1.1 3.93E-05
5494 45 G/R 102 rs727504697 0.6374 None gnomAD-3.1.2 3.95E-05
5494 45 G/R 102 rs727504697 0.6374 None gnomAD-4.0.0 1.05361E-05
5495 46 S/G 115 None 0.5604 None gnomAD-4.0.0 1.20032E-06
5495 46 S/N 115 rs1183828555 0.5604 None gnomAD-2.1.1 4.03E-06
5495 46 S/N 115 rs1183828555 0.5604 None gnomAD-4.0.0 1.36851E-06
5495 46 S/T 115 rs1183828555 0.5604 None gnomAD-2.1.1 4.03E-06
5496 47 C/Y 121 rs373848201 0.1691 None gnomAD-2.1.1 8.06E-06
5496 47 C/Y 121 rs373848201 0.1691 None gnomAD-3.1.2 6.58E-06
5496 47 C/Y 121 rs373848201 0.1691 None gnomAD-4.0.0 2.56283E-06
5497 48 Y/C 122 rs946624122 0.7116 None gnomAD-4.0.0 4.78982E-06
5497 48 Y/H 122 rs1279249843 0.7116 None gnomAD-2.1.1 4.03E-06
5497 48 Y/H 122 rs1279249843 0.7116 None gnomAD-3.1.2 6.57E-06
5497 48 Y/H 122 rs1279249843 0.7116 None gnomAD-4.0.0 3.84389E-06
5497 48 Y/N 122 rs1279249843 0.7116 None gnomAD-2.1.1 4.03E-06
5497 48 Y/N 122 rs1279249843 0.7116 None gnomAD-4.0.0 1.59155E-06
5499 50 T/S 125 rs774316553 0.5308 None gnomAD-2.1.1 4.03E-06
5499 50 T/S 125 rs774316553 0.5308 None gnomAD-4.0.0 1.59156E-06
5501 52 E/K 130 None 0.5755 None gnomAD-4.0.0 6.84262E-07
5502 53 A/G 131 None 0.5630 None gnomAD-4.0.0 6.84268E-07
5502 53 A/V 131 rs1257068950 0.5630 None gnomAD-2.1.1 4.03E-06
5502 53 A/V 131 rs1257068950 0.5630 None gnomAD-4.0.0 1.16326E-05
5504 55 E/D 135 None 0.3885 None gnomAD-4.0.0 1.20032E-06
5504 55 E/G 135 rs1038822352 0.3885 None gnomAD-4.0.0 6.84267E-07
5504 55 E/K 135 rs2080741049 0.3885 None gnomAD-3.1.2 6.57E-06
5504 55 E/K 135 rs2080741049 0.3885 None gnomAD-4.0.0 6.57315E-06
5504 55 E/Q 135 None 0.3885 None gnomAD-4.0.0 1.20032E-06
5504 55 E/V 135 rs1038822352 0.3885 None gnomAD-2.1.1 4.03E-06
5504 55 E/V 135 rs1038822352 0.3885 None gnomAD-3.1.2 1.97E-05
5504 55 E/V 135 rs1038822352 0.3885 None gnomAD-4.0.0 4.95802E-06
5505 56 S/N 136 rs2080739721 0.0981 None gnomAD-4.0.0 1.59157E-06
5506 57 S/A 137 None 0.1690 None gnomAD-4.0.0 1.20032E-06
5506 57 S/F 137 rs201125295 0.1690 None gnomAD-2.1.1 2.01E-05
5506 57 S/F 137 rs201125295 0.1690 None gnomAD-3.1.2 3.95E-05
5506 57 S/F 137 rs201125295 0.1690 None gnomAD-4.0.0 4.89621E-05
5508 59 E/G 139 None 0.3242 None gnomAD-4.0.0 1.20032E-06
5510 61 Y/C 141 rs72648939 0.5221 None gnomAD-2.1.1 2.21299E-03
5510 61 Y/C 141 rs72648939 0.5221 None gnomAD-3.1.2 1.20257E-03
5510 61 Y/C 141 rs72648939 0.5221 None 1000 genomes 6.78914E-03
5510 61 Y/C 141 rs72648939 0.5221 None gnomAD-4.0.0 8.30995E-04
5510 61 Y/F 141 None 0.5221 None gnomAD-4.0.0 1.36852E-06
5512 63 V/I 144 None 0.1049 None gnomAD-4.0.0 1.59154E-06
5513 64 K/N 145 None 0.6749 None gnomAD-4.0.0 1.20032E-06
5514 65 T/I 146 None 0.5551 None gnomAD-4.0.0 1.59152E-06
5514 65 T/N 146 rs2080735339 0.5551 None gnomAD-3.1.2 6.57E-06
5514 65 T/N 146 rs2080735339 0.5551 None gnomAD-4.0.0 6.57255E-06
5516 67 D/G 149 None 0.2620 None gnomAD-4.0.0 1.20032E-06
5516 67 D/Y 149 rs72648940 0.2620 None gnomAD-2.1.1 5.21779E-04
5516 67 D/Y 149 rs72648940 0.2620 None gnomAD-3.1.2 3.81123E-04
5516 67 D/Y 149 rs72648940 0.2620 None 1000 genomes 3.99361E-04
5516 67 D/Y 149 rs72648940 0.2620 None gnomAD-4.0.0 5.34162E-04
5517 68 S/A 151 rs200520316 0.2057 None gnomAD-2.1.1 8.86E-05
5517 68 S/A 151 rs200520316 0.2057 None gnomAD-3.1.2 1.31E-05
5517 68 S/A 151 rs200520316 0.2057 None 1000 genomes 1.99681E-04
5517 68 S/A 151 rs200520316 0.2057 None gnomAD-4.0.0 4.70959E-05
5517 68 S/L 151 rs769165258 0.2057 None gnomAD-2.1.1 5.36E-05
5517 68 S/L 151 rs769165258 0.2057 None gnomAD-3.1.2 4.6E-05
5517 68 S/L 151 rs769165258 0.2057 None gnomAD-4.0.0 1.92126E-05
5518 69 G/D 152 None 0.2511 None gnomAD-4.0.0 4.80129E-06
5519 70 T/K 153 None 0.3737 None gnomAD-4.0.0 6.84267E-07
5519 70 T/M 153 rs1048810880 0.3737 None gnomAD-2.1.1 1.21E-05
5519 70 T/M 153 rs1048810880 0.3737 None gnomAD-3.1.2 1.31E-05
5519 70 T/M 153 rs1048810880 0.3737 None gnomAD-4.0.0 1.42544E-05
5519 70 T/S 153 rs756756873 0.3737 None gnomAD-2.1.1 8.05E-06
5519 70 T/S 153 rs756756873 0.3737 None gnomAD-3.1.2 6.57E-06
5519 70 T/S 153 rs756756873 0.3737 None gnomAD-4.0.0 3.09862E-05
5520 71 Y/C 154 None 0.1300 None gnomAD-4.0.0 1.59156E-06
5521 72 T/A 155 rs777565819 0.1527 None gnomAD-2.1.1 4.02E-06
5521 72 T/A 155 rs777565819 0.1527 None gnomAD-4.0.0 1.36857E-06
5521 72 T/I 155 None 0.1527 None gnomAD-4.0.0 6.84278E-07
5521 72 T/K 155 None 0.1527 None gnomAD-4.0.0 6.84278E-07
5521 72 T/R 155 None 0.1527 None gnomAD-4.0.0 1.36856E-06
5522 73 C/G 156 rs2080729558 0.0685 None gnomAD-4.0.0 1.36858E-06
5522 73 C/S 156 None 0.0685 None gnomAD-4.0.0 1.36858E-06
5523 74 K/E 157 rs755764408 0.2396 None gnomAD-2.1.1 4.03E-06
5523 74 K/E 157 rs755764408 0.2396 None gnomAD-4.0.0 1.59185E-06
5524 75 V/I 158 None 0.0953 None gnomAD-4.0.0 1.59197E-06
5525 76 S/I 159 None 0.2811 None gnomAD-4.0.0 1.36918E-06
5525 76 S/R 159 None 0.2811 None gnomAD-4.0.0 1.59319E-06
5525 76 S/T 159 rs727503649 0.2811 None gnomAD-4.0.0 6.84592E-07
5526 77 N/D 161 rs752558197 0.1976 None gnomAD-4.0.0 3.42267E-06
5526 77 N/H 161 rs752558197 0.1976 None gnomAD-2.1.1 2.01E-05
5526 77 N/H 161 rs752558197 0.1976 None gnomAD-4.0.0 3.42267E-05
5526 77 N/S 161 rs767376352 0.1976 None gnomAD-2.1.1 8.06E-06
5526 77 N/S 161 rs767376352 0.1976 None gnomAD-3.1.2 1.31E-05
5526 77 N/S 161 rs767376352 0.1976 None gnomAD-4.0.0 6.41093E-06
5527 78 V/A 162 rs541467635 1.0053 None gnomAD-2.1.1 4.03E-06
5527 78 V/A 162 rs541467635 1.0053 None gnomAD-3.1.2 6.57E-06
5527 78 V/A 162 rs541467635 1.0053 None 1000 genomes 1.99681E-04
5527 78 V/A 162 rs541467635 1.0053 None gnomAD-4.0.0 6.56564E-06
5527 78 V/I 162 rs1334663895 1.0053 None gnomAD-2.1.1 4.03E-06
5527 78 V/I 162 rs1334663895 1.0053 None gnomAD-3.1.2 6.57E-06
5527 78 V/I 162 rs1334663895 1.0053 None gnomAD-4.0.0 5.12909E-06
5528 79 A/T 163 rs185753307 0.6844 None gnomAD-2.1.1 1.79E-05
5528 79 A/T 163 rs185753307 0.6844 None gnomAD-3.1.2 3.29E-05
5528 79 A/T 163 rs185753307 0.6844 None 1000 genomes 1.99681E-04
5528 79 A/T 163 rs185753307 0.6844 None gnomAD-4.0.0 1.42623E-05
5528 79 A/V 163 None 0.6844 None gnomAD-4.0.0 1.59402E-06
5529 80 G/R 164 None 0.3275 None gnomAD-4.0.0 1.59423E-06
5533 84 C/F 169 None 0.1512 None gnomAD-4.0.0 1.59869E-06
5534 85 S/G 171 None 0.3876 None gnomAD-4.0.0 1.20032E-06
5535 86 A/T 172 rs1442669083 0.1262 None gnomAD-2.1.1 3.18E-05
5535 86 A/T 172 rs1442669083 0.1262 None gnomAD-3.1.2 6.57E-06
5535 86 A/T 172 rs1442669083 0.1262 None gnomAD-4.0.0 3.10908E-06
5536 87 N/K 173 rs1386348152 0.5476 None gnomAD-2.1.1 4.07E-06
5536 87 N/K 173 rs1386348152 0.5476 None gnomAD-4.0.0 1.60937E-06
5536 87 N/S 173 rs1380672169 0.5476 None gnomAD-2.1.1 4.07E-06
5536 87 N/S 173 rs1380672169 0.5476 None gnomAD-4.0.0 1.6095E-06
5537 88 L/F 174 rs763076529 0.1295 None gnomAD-4.0.0 1.62702E-06
5539 90 V/A 177 rs773371925 0.0888 None gnomAD-2.1.1 4.15E-06
5539 90 V/A 177 rs773371925 0.0888 None gnomAD-4.0.0 3.25629E-06
5539 90 V/I 177 rs2154310288 0.0888 None gnomAD-4.0.0 1.6287E-06