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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
31409 2 P/Q 2 None 0.1342 None gnomAD-4.0.0 2.40065E-06
31409 2 P/S 2 rs1464695009 0.1342 None gnomAD-2.1.1 1.24E-05
31409 2 P/S 2 rs1464695009 0.1342 None gnomAD-4.0.0 8.07935E-06
31411 4 A/T 4 rs745652405 0.2205 None gnomAD-2.1.1 4.01E-05
31411 4 A/T 4 rs745652405 0.2205 None gnomAD-3.1.2 1.97E-05
31411 4 A/T 4 rs745652405 0.2205 None gnomAD-4.0.0 1.68125E-05
31412 5 P/A 5 rs757361681 0.1237 None gnomAD-2.1.1 4.07E-06
31412 5 P/A 5 rs757361681 0.1237 None gnomAD-4.0.0 1.37288E-06
31412 5 P/L 5 rs1454161350 0.1237 None gnomAD-2.1.1 3.19E-05
31412 5 P/L 5 rs1454161350 0.1237 None gnomAD-3.1.2 6.57E-06
31412 5 P/L 5 rs1454161350 0.1237 None gnomAD-4.0.0 2.57798E-06
31412 5 P/S 5 rs757361681 0.1237 None gnomAD-2.1.1 4.07E-06
31412 5 P/S 5 rs757361681 0.1237 None gnomAD-4.0.0 6.86442E-07
31413 6 T/A 6 rs1361033922 0.3323 None gnomAD-2.1.1 4.06E-06
31413 6 T/A 6 rs1361033922 0.3323 None gnomAD-4.0.0 2.7443E-06
31414 7 R/G 7 rs369418580 0.3297 None gnomAD-2.1.1 1.8E-05
31414 7 R/G 7 rs369418580 0.3297 None gnomAD-3.1.2 1.97E-05
31414 7 R/G 7 rs369418580 0.3297 None gnomAD-4.0.0 1.80127E-05
31415 8 P/L 9 rs756168192 0.1297 None gnomAD-2.1.1 4.04E-06
31415 8 P/L 9 rs756168192 0.1297 None gnomAD-4.0.0 1.59585E-06
31417 10 V/A 12 rs878947167 0.2444 None gnomAD-2.1.1 4.03E-06
31417 10 V/A 12 rs878947167 0.2444 None gnomAD-4.0.0 5.47692E-06
31417 10 V/I 12 rs1188866872 0.2444 None gnomAD-3.1.2 6.57E-06
31417 10 V/I 12 rs1188866872 0.2444 None gnomAD-4.0.0 6.57333E-06
31420 13 V/M 15 rs1697609809 0.2575 None gnomAD-4.0.0 6.84396E-07
31422 15 A/P 17 rs755395347 0.1296 None gnomAD-2.1.1 4.03E-06
31422 15 A/P 17 rs755395347 0.1296 None gnomAD-4.0.0 1.59183E-06
31422 15 A/V 17 None 0.1296 None gnomAD-4.0.0 1.59161E-06
31423 16 N/H 18 rs751814511 0.5657 None gnomAD-2.1.1 4.02E-06
31423 16 N/H 18 rs751814511 0.5657 None gnomAD-4.0.0 1.59153E-06
31423 16 N/K 18 rs1387191410 0.5657 None gnomAD-2.1.1 4.02E-06
31423 16 N/K 18 rs1387191410 0.5657 None gnomAD-4.0.0 1.59148E-06
31424 17 A/P 19 None 0.1160 None gnomAD-4.0.0 1.59158E-06
31424 17 A/V 19 rs1178719189 0.1160 None gnomAD-4.0.0 1.20033E-06
31425 18 M/I 20 None 0.0734 None gnomAD-4.0.0 1.20032E-06
31425 18 M/K 20 rs764947983 0.0734 None gnomAD-2.1.1 3.18E-05
31425 18 M/K 20 rs764947983 0.0734 None gnomAD-3.1.2 6.57E-06
31425 18 M/K 20 rs764947983 0.0734 None gnomAD-4.0.0 2.56218E-06
31425 18 M/T 20 rs764947983 0.0734 None gnomAD-2.1.1 4.02E-06
31425 18 M/T 20 rs764947983 0.0734 None gnomAD-4.0.0 1.59138E-06
31426 19 S/F 21 rs369284856 0.1149 None gnomAD-2.1.1 8.05E-06
31426 19 S/F 21 rs369284856 0.1149 None gnomAD-3.1.2 6.57E-06
31426 19 S/F 21 rs369284856 0.1149 None gnomAD-4.0.0 2.56221E-06
31427 20 I/L 22 rs776226409 0.0671 None gnomAD-2.1.1 8.04E-06
31427 20 I/L 22 rs776226409 0.0671 None gnomAD-4.0.0 4.10533E-06
31427 20 I/V 22 None 0.0671 None gnomAD-4.0.0 6.84222E-07
31428 21 R/C 23 rs190282707 0.4241 None gnomAD-2.1.1 2.5E-05
31428 21 R/C 23 rs190282707 0.4241 None gnomAD-3.1.2 3.94E-05
31428 21 R/C 23 rs190282707 0.4241 None gnomAD-4.0.0 1.05344E-05
31428 21 R/G 23 rs190282707 0.4241 None gnomAD-2.1.1 1.07135E-04
31428 21 R/G 23 rs190282707 0.4241 None gnomAD-3.1.2 2.76051E-04
31428 21 R/G 23 rs190282707 0.4241 None gnomAD-4.0.0 4.52359E-05
31428 21 R/H 23 rs149375775 0.4241 None gnomAD-2.1.1 2.78548E-04
31428 21 R/H 23 rs149375775 0.4241 None gnomAD-3.1.2 8.74011E-04
31428 21 R/H 23 rs149375775 0.4241 None 1000 genomes 5.99042E-04
31428 21 R/H 23 rs149375775 0.4241 None gnomAD-4.0.0 1.71026E-04
31428 21 R/S 23 None 0.4241 None gnomAD-2.1.1 2.5E-05
31428 21 R/S 23 None 0.4241 None gnomAD-3.1.2 8.54E-05
31428 21 R/S 23 None 0.4241 None gnomAD-4.0.0 4.27603E-05
31429 22 W/C 24 None 0.1182 None gnomAD-4.0.0 1.59132E-06
31429 22 W/R 24 None 0.1182 TMD
Literature None
31429 22 W/R 24 None 0.1182 None gnomAD-4.0.0 1.20032E-06
31430 23 E/G 25 rs1697596654 0.6464 None gnomAD-4.0.0 1.5913E-06
31430 23 E/K 25 rs868051341 0.6464 None gnomAD-3.1.2 6.57E-06
31430 23 E/K 25 rs868051341 0.6464 None gnomAD-4.0.0 3.04484E-06
31431 24 E/G 26 None 0.6630 None gnomAD-4.0.0 1.5913E-06
31432 25 P/L 27 rs759415579 0.1595 None gnomAD-2.1.1 3.22E-05
31432 25 P/L 27 rs759415579 0.1595 None gnomAD-4.0.0 1.43685E-05
31434 27 H/Y 29 rs773946401 0.5401 None gnomAD-2.1.1 1.21E-05
31434 27 H/Y 29 rs773946401 0.5401 None gnomAD-3.1.2 6.57E-06
31434 27 H/Y 29 rs773946401 0.5401 None gnomAD-4.0.0 7.68675E-06
31435 28 D/G 30 rs1271635080 0.2664 None gnomAD-2.1.1 4.02E-06
31435 28 D/G 30 rs1271635080 0.2664 None gnomAD-4.0.0 6.84213E-06
31435 28 D/N 30 rs367771286 0.2664 None gnomAD-2.1.1 6.43E-05
31435 28 D/N 30 rs367771286 0.2664 None gnomAD-3.1.2 4.6E-05
31435 28 D/N 30 rs367771286 0.2664 None gnomAD-4.0.0 6.44479E-05
31436 29 G/D 31 rs550306496 0.3335 None gnomAD-2.1.1 8.04E-06
31436 29 G/D 31 rs550306496 0.3335 None gnomAD-3.1.2 6.57E-06
31436 29 G/D 31 rs550306496 0.3335 None 1000 genomes 1.99681E-04
31436 29 G/D 31 rs550306496 0.3335 None gnomAD-4.0.0 6.19642E-06
31437 30 G/V 32 rs1313606225 0.6498 None gnomAD-2.1.1 3.18E-05
31437 30 G/V 32 rs1313606225 0.6498 None gnomAD-3.1.2 6.57E-06
31437 30 G/V 32 rs1313606225 0.6498 None gnomAD-4.0.0 3.7182E-06
31438 31 S/N 33 rs769930510 0.2851 None gnomAD-2.1.1 8.04E-06
31438 31 S/N 33 rs769930510 0.2851 None gnomAD-4.0.0 2.05264E-06
31439 32 K/E 34 None 0.9168 None gnomAD-4.0.0 1.20032E-06
31441 34 I/F 36 None 0.3415 None gnomAD-4.0.0 1.59124E-06
31441 34 I/M 36 None 0.3415 None gnomAD-4.0.0 2.05262E-06
31441 34 I/T 36 rs1388468468 0.3415 None gnomAD-2.1.1 4.02E-06
31441 34 I/T 36 rs1388468468 0.3415 None gnomAD-4.0.0 8.21044E-06
31441 34 I/V 36 None 0.3415 None gnomAD-4.0.0 3.18248E-06
31442 35 G/A 37 None 0.0884 None gnomAD-4.0.0 2.40064E-06
31444 37 W/C 39 rs1697578690 0.1931 None gnomAD-3.1.2 6.57E-06
31444 37 W/C 39 rs1697578690 0.1931 None gnomAD-4.0.0 6.57289E-06
31444 37 W/R 39 rs533447102 0.1931 None gnomAD-2.1.1 5.62E-05
31444 37 W/R 39 rs533447102 0.1931 None gnomAD-3.1.2 1.97E-05
31444 37 W/R 39 rs533447102 0.1931 None 1000 genomes 1.99681E-04
31444 37 W/R 39 rs533447102 0.1931 None gnomAD-4.0.0 2.23073E-05
31445 38 V/I 40 rs564410456 0.0943 None gnomAD-2.1.1 8.03E-06
31445 38 V/I 40 rs564410456 0.0943 None gnomAD-3.1.2 6.57E-06
31445 38 V/I 40 rs564410456 0.0943 None 1000 genomes 1.99681E-04
31445 38 V/I 40 rs564410456 0.0943 None gnomAD-4.0.0 3.09824E-06
31445 38 V/L 40 rs564410456 0.0943 None gnomAD-2.1.1 4.02E-06
31445 38 V/L 40 rs564410456 0.0943 None gnomAD-4.0.0 6.84202E-07
31446 39 E/A 41 None 0.1204 None gnomAD-4.0.0 1.5912E-06
31447 40 K/N 42 rs1169915824 0.1687 None gnomAD-2.1.1 4.02E-06
31447 40 K/N 42 rs1169915824 0.1687 None gnomAD-4.0.0 1.59119E-06
31448 41 K/N 43 rs1475927387 0.1496 None gnomAD-4.0.0 1.36839E-06
31449 42 E/K 44 rs374474093 0.2956 None gnomAD-2.1.1 4.02E-06
31449 42 E/K 44 rs374474093 0.2956 None gnomAD-4.0.0 6.84196E-07
31449 42 E/Q 44 rs374474093 0.2956 None gnomAD-2.1.1 4.02E-06
31450 43 R/C 50 rs541040798 0.5481 None gnomAD-2.1.1 3.24608E-04
31450 43 R/C 50 rs541040798 0.5481 None gnomAD-3.1.2 9.21E-05
31450 43 R/C 50 rs541040798 0.5481 None 1000 genomes 3.99361E-04
31450 43 R/C 50 rs541040798 0.5481 None gnomAD-4.0.0 1.59878E-04
31450 43 R/H 50 rs751985617 0.5481 None gnomAD-2.1.1 4.02E-06
31450 43 R/H 50 rs751985617 0.5481 None gnomAD-4.0.0 3.421E-06
31452 45 T/K 60 rs1270325139 0.3206 None gnomAD-2.1.1 4.02E-06
31452 45 T/K 60 rs1270325139 0.3206 None gnomAD-4.0.0 1.59117E-06
31453 46 I/F 63 rs780232811 0.9902 None gnomAD-2.1.1 4.02E-06
31453 46 I/F 63 rs780232811 0.9902 None gnomAD-4.0.0 6.84196E-07
31453 46 I/V 63 rs780232811 0.9902 None gnomAD-3.1.2 1.31E-05
31453 46 I/V 63 rs780232811 0.9902 None gnomAD-4.0.0 4.33778E-06
31454 47 L/F 64 rs758766295 0.8472 None gnomAD-2.1.1 4.02E-06
31454 47 L/F 64 rs758766295 0.8472 None gnomAD-4.0.0 5.47357E-06
31454 47 L/I 64 rs758766295 0.8472 None gnomAD-2.1.1 4.02E-06
31454 47 L/I 64 rs758766295 0.8472 None gnomAD-3.1.2 6.57E-06
31454 47 L/I 64 rs758766295 0.8472 None gnomAD-4.0.0 2.4788E-06
31455 48 W/G 65 None 0.2550 None gnomAD-4.0.0 1.20032E-06
31455 48 W/R 65 rs1697563457 0.2550 None gnomAD-4.0.0 1.20032E-06
31456 49 V/M 66 rs1559156264 0.5171 None gnomAD-2.1.1 4.02E-06
31456 49 V/M 66 rs1559156264 0.5171 None gnomAD-3.1.2 6.57E-06
31456 49 V/M 66 rs1559156264 0.5171 None gnomAD-4.0.0 2.56218E-06
31458 51 E/G 68 rs763832963 0.1635 None gnomAD-2.1.1 8.03E-06
31458 51 E/G 68 rs763832963 0.1635 None gnomAD-4.0.0 3.18238E-06
31458 51 E/K 68 rs1697558384 0.1635 None gnomAD-4.0.0 1.5912E-06
31460 53 K/Q 70 None 0.9750 None gnomAD-4.0.0 1.36839E-06
31460 53 K/R 70 None 0.9750 None gnomAD-4.0.0 1.20032E-06
31461 54 V/L 72 rs1206905148 0.6411 None gnomAD-3.1.2 6.57E-06
31461 54 V/L 72 rs1206905148 0.6411 None gnomAD-4.0.0 6.57307E-06
31462 55 P/A 75 None 0.2206 None gnomAD-4.0.0 6.84202E-07
31462 55 P/S 75 rs1311115144 0.2206 None gnomAD-4.0.0 6.84202E-07
31462 55 P/T 75 rs1311115144 0.2206 None gnomAD-3.1.2 6.58E-06
31462 55 P/T 75 rs1311115144 0.2206 None gnomAD-4.0.0 6.5754E-06
31463 56 C/G 77 None 0.1168 None gnomAD-4.0.0 1.20032E-06
31463 56 C/Y 77 rs760317660 0.1168 None gnomAD-2.1.1 4.02E-06
31465 58 E/K 88 rs752194452 0.6487 None gnomAD-2.1.1 1.07E-05
31465 58 E/K 88 rs752194452 0.6487 None gnomAD-3.1.2 3.94E-05
31465 58 E/K 88 rs752194452 0.6487 None gnomAD-4.0.0 5.57718E-06
31465 58 E/Q 88 None 0.6487 None gnomAD-4.0.0 2.05261E-06
31466 59 C/G 89 rs1697549166 0.0992 None gnomAD-4.0.0 1.59128E-06
31468 61 Y/C 91 None 0.2066 None gnomAD-4.0.0 4.10523E-06
31471 64 T/I 94 rs759347301 0.4570 None gnomAD-2.1.1 1.2E-05
31471 64 T/I 94 rs759347301 0.4570 None gnomAD-4.0.0 1.02632E-05
31472 65 G/S 96 rs1331080177 0.4538 None gnomAD-2.1.1 8.03E-06
31472 65 G/S 96 rs1331080177 0.4538 None gnomAD-4.0.0 2.05263E-06
31473 66 L/S 97 None 0.1037 None gnomAD-4.0.0 1.20032E-06
31474 67 V/A 98 rs1401860835 0.4705 None gnomAD-2.1.1 4.02E-06
31474 67 V/A 98 rs1401860835 0.4705 None gnomAD-4.0.0 1.59129E-06
31474 67 V/I 98 rs1410759884 0.4705 None gnomAD-2.1.1 7.13E-06
31474 67 V/I 98 rs1410759884 0.4705 None gnomAD-3.1.2 1.31E-05
31474 67 V/I 98 rs1410759884 0.4705 None gnomAD-4.0.0 3.84307E-06
31475 68 E/Q 99 rs1171182062 0.5303 None gnomAD-2.1.1 3.19E-05
31475 68 E/Q 99 rs1171182062 0.5303 None gnomAD-3.1.2 6.57E-06
31475 68 E/Q 99 rs1171182062 0.5303 None gnomAD-4.0.0 6.57177E-06
31476 69 G/R 100 rs1481659337 0.2889 None gnomAD-2.1.1 4.02E-06
31476 69 G/R 100 rs1481659337 0.2889 None gnomAD-4.0.0 1.5913E-06
31480 73 Q/E 105 None 0.2069 None gnomAD-4.0.0 1.20032E-06
31480 73 Q/H 105 rs1182145400 0.2069 None gnomAD-2.1.1 4.02E-06
31480 73 Q/H 105 rs1182145400 0.2069 None gnomAD-4.0.0 1.59132E-06
31481 74 F/L 106 None 0.1146 None gnomAD-4.0.0 1.16316E-05
31482 75 R/T 107 None 0.1416 None gnomAD-4.0.0 1.59132E-06
31488 81 A/D 113 None 0.6186 None gnomAD-4.0.0 1.59141E-06
31489 82 A/S 114 rs773485371 0.5048 None gnomAD-2.1.1 4.02E-06
31490 83 G/D 115 None 0.1865 None gnomAD-4.0.0 2.05278E-06
31490 83 G/R 115 None 0.1865 None gnomAD-4.0.0 1.20032E-06
31491 84 V/F 117 None 0.3207 None gnomAD-4.0.0 2.40064E-06
31494 87 A/D 120 rs748231785 0.2322 None gnomAD-2.1.1 4.03E-06
31494 87 A/D 120 rs748231785 0.2322 None gnomAD-4.0.0 3.18423E-06
31494 87 A/T 120 rs769948504 0.2322 None gnomAD-2.1.1 8.05E-06
31494 87 A/T 120 rs769948504 0.2322 None gnomAD-4.0.0 5.4749E-06
31495 88 S/N 121 rs1329167679 0.1264 None gnomAD-3.1.2 1.31E-05
31495 88 S/N 121 rs1329167679 0.1264 None gnomAD-4.0.0 2.47939E-06
31496 89 E/K 122 rs769175534 0.4950 None gnomAD-2.1.1 2.82E-05
31496 89 E/K 122 rs769175534 0.4950 None gnomAD-3.1.2 6.57E-06
31496 89 E/K 122 rs769175534 0.4950 None gnomAD-4.0.0 1.30175E-05
31496 89 E/Q 122 None 0.4950 None gnomAD-4.0.0 6.84448E-07
31497 90 A/T 123 rs1371205000 0.2140 None gnomAD-2.1.1 4.03E-06
31497 90 A/T 123 rs1371205000 0.2140 None gnomAD-3.1.2 6.57E-06
31497 90 A/T 123 rs1371205000 0.2140 None gnomAD-4.0.0 2.56464E-06
31498 91 S/L 124 rs1281357207 0.1320 None gnomAD-2.1.1 4.03E-06
31498 91 S/L 124 rs1281357207 0.1320 None gnomAD-4.0.0 1.36918E-06
31499 92 R/I 125 None 0.9022 None gnomAD-4.0.0 1.20032E-06
31500 93 P/L 126 None 0.3940 None gnomAD-4.0.0 1.36998E-06
31500 93 P/R 126 rs747518732 0.3940 None gnomAD-2.1.1 4.03E-06
31500 93 P/R 126 rs747518732 0.3940 None gnomAD-3.1.2 6.57E-06
31500 93 P/R 126 rs747518732 0.3940 None gnomAD-4.0.0 1.86097E-06
31500 93 P/S 126 None 0.3940 None gnomAD-4.0.0 1.20032E-06
31501 94 I/L 127 None 0.3238 None gnomAD-4.0.0 6.84981E-07
31501 94 I/T 127 rs758756316 0.3238 None gnomAD-2.1.1 1.21E-05
31501 94 I/T 127 rs758756316 0.3238 None gnomAD-4.0.0 2.55288E-05
31501 94 I/V 127 rs780578358 0.3238 None gnomAD-2.1.1 4.03E-06
31501 94 I/V 127 rs780578358 0.3238 None gnomAD-3.1.2 1.31E-05
31501 94 I/V 127 rs780578358 0.3238 None gnomAD-4.0.0 7.44366E-06
31502 95 M/T 129 None 0.3574 None gnomAD-4.0.0 1.20033E-06
31503 96 A/T 130 rs375657115 0.0648 None gnomAD-2.1.1 5.04E-05
31503 96 A/T 130 rs375657115 0.0648 None gnomAD-3.1.2 4.6E-05
31503 96 A/T 130 rs375657115 0.0648 None 1000 genomes 1.99681E-04
31503 96 A/T 130 rs375657115 0.0648 None gnomAD-4.0.0 5.28468E-05
31504 97 Q/P 131 rs777578106 0.4079 None gnomAD-2.1.1 8.11E-06
31504 97 Q/P 131 rs777578106 0.4079 None gnomAD-4.0.0 3.208E-06
31505 98 N/T 132 rs755756435 0.2935 None gnomAD-2.1.1 1.22E-05
31505 98 N/T 132 rs755756435 0.2935 None gnomAD-4.0.0 3.43351E-06