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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
1457 1 P/A 1 None 0.1864 None gnomAD-4.0.0 1.59072E-06
1458 2 V/D 2 None 0.5997 None gnomAD-4.0.0 1.36822E-06
1458 2 V/G 2 rs1164246536 0.5997 None gnomAD-2.1.1 3.19E-05
1458 2 V/G 2 rs1164246536 0.5997 None gnomAD-3.1.2 1.31E-05
1458 2 V/G 2 rs1164246536 0.5997 None gnomAD-4.0.0 4.33734E-06
1460 4 V/L 4 rs771127151 0.4754 None gnomAD-2.1.1 3.99E-06
1460 4 V/L 4 rs771127151 0.4754 None gnomAD-4.0.0 1.59074E-06
1460 4 V/M 4 rs771127151 0.4754 None gnomAD-2.1.1 3.99E-06
1460 4 V/M 4 rs771127151 0.4754 None gnomAD-3.1.2 6.57E-06
1460 4 V/M 4 rs771127151 0.4754 None gnomAD-4.0.0 6.40387E-06
1463 7 P/A 8 rs2092386861 0.2084 None gnomAD-4.0.0 2.40064E-06
1465 9 S/Y 11 rs2092386112 0.3418 None gnomAD-3.1.2 6.57E-06
1465 9 S/Y 11 rs2092386112 0.3418 None gnomAD-4.0.0 6.57194E-06
1466 10 F/L 13 rs151310601 0.3157 None gnomAD-2.1.1 6.8711E-04
1466 10 F/L 13 rs151310601 0.3157 None gnomAD-3.1.2 8.67325E-04
1466 10 F/L 13 rs151310601 0.3157 None 1000 genomes 3.99361E-04
1466 10 F/L 13 rs151310601 0.3157 None gnomAD-4.0.0 1.20032E-06
1468 12 C/S 16 None 0.1089 None gnomAD-4.0.0 2.40064E-06
1469 13 L/S 18 rs1421828840 0.5407 None gnomAD-2.1.1 3.19E-05
1469 13 L/S 18 rs1421828840 0.5407 None gnomAD-3.1.2 6.57E-06
1469 13 L/S 18 rs1421828840 0.5407 None gnomAD-4.0.0 6.57022E-06
1471 15 G/A 24 rs1028140338 0.3952 None gnomAD-3.1.2 1.31E-05
1471 15 G/A 24 rs1028140338 0.3952 None gnomAD-4.0.0 1.3147E-05
1471 15 G/E 24 rs1028140338 0.3952 None gnomAD-4.0.0 1.59073E-06
1473 17 T/S 26 None 0.4411 None gnomAD-4.0.0 1.20032E-06
1474 18 A/G 28 rs367739896 0.1222 None gnomAD-2.1.1 7.97E-06
1474 18 A/G 28 rs367739896 0.1222 None gnomAD-4.0.0 4.78878E-06
1474 18 A/T 28 None 0.1222 None gnomAD-4.0.0 1.20032E-06
1474 18 A/V 28 rs367739896 0.1222 None gnomAD-2.1.1 3.99E-06
1475 19 R/K 29 rs374591242 0.4127 None gnomAD-2.1.1 3.99E-06
1475 19 R/K 29 rs374591242 0.4127 None gnomAD-3.1.2 1.97E-05
1475 19 R/K 29 rs374591242 0.4127 None gnomAD-4.0.0 5.12262E-06
1476 20 F/S 30 None 0.1367 None gnomAD-4.0.0 1.59072E-06
1476 20 F/Y 30 rs1480994603 0.1367 None gnomAD-2.1.1 3.99E-06
1476 20 F/Y 30 rs1480994603 0.1367 None gnomAD-4.0.0 1.59072E-06
1477 21 D/H 31 rs532313981 0.3525 None gnomAD-2.1.1 1.99E-05
1477 21 D/H 31 rs532313981 0.3525 None gnomAD-3.1.2 6.57E-06
1477 21 D/H 31 rs532313981 0.3525 None 1000 genomes 1.99681E-04
1477 21 D/H 31 rs532313981 0.3525 None gnomAD-4.0.0 4.33705E-06
1477 21 D/Y 31 None 0.3525 None gnomAD-4.0.0 6.84128E-07
1478 22 L/F 33 rs1175803570 0.0996 None gnomAD-2.1.1 3.99E-06
1478 22 L/F 33 rs1175803570 0.0996 None gnomAD-4.0.0 1.36821E-06
1479 23 K/N 34 None 0.3051 None gnomAD-4.0.0 2.73644E-06
1479 23 K/R 34 rs566441215 0.3051 None gnomAD-2.1.1 7.97E-06
1479 23 K/R 34 rs566441215 0.3051 None gnomAD-3.1.2 6.57E-06
1479 23 K/R 34 rs566441215 0.3051 None 1000 genomes 1.99681E-04
1479 23 K/R 34 rs566441215 0.3051 None gnomAD-4.0.0 1.36299E-05
1480 24 V/A 35 None 0.1373 None gnomAD-4.0.0 2.40064E-06
1480 24 V/L 35 None 0.1373 None gnomAD-4.0.0 1.20032E-06
1481 25 V/A 38 rs1252349535 0.3753 None gnomAD-2.1.1 7.97E-06
1481 25 V/A 38 rs1252349535 0.3753 None gnomAD-4.0.0 4.10463E-06
1482 26 G/S 40 None 0.2265 None gnomAD-4.0.0 3.42052E-06
1483 27 R/S 41 rs546160098 0.9107 None gnomAD-2.1.1 2.13E-05
1483 27 R/S 41 rs546160098 0.9107 None gnomAD-3.1.2 3.28E-05
1483 27 R/S 41 rs546160098 0.9107 None 1000 genomes 1.99681E-04
1483 27 R/S 41 rs546160098 0.9107 None gnomAD-4.0.0 1.92068E-05
1484 28 P/L 42 rs2092381354 0.3885 None gnomAD-4.0.0 1.36824E-06
1484 28 P/R 42 None 0.3885 None gnomAD-4.0.0 6.84119E-07
1484 28 P/T 42 rs1275579483 0.3885 None gnomAD-3.1.2 6.57E-06
1484 28 P/T 42 rs1275579483 0.3885 None gnomAD-4.0.0 6.57194E-06
1485 29 M/V 43 rs753632784 0.4077 None gnomAD-2.1.1 7.08E-05
1485 29 M/V 43 rs753632784 0.4077 None gnomAD-3.1.2 1.31E-05
1485 29 M/V 43 rs753632784 0.4077 None gnomAD-4.0.0 1.98264E-05
1486 30 P/L 44 None 0.1733 None gnomAD-4.0.0 1.59079E-06
1487 31 E/D 45 None 0.6693 None gnomAD-4.0.0 6.84115E-07
1487 31 E/G 45 rs1561308394 0.6693 None gnomAD-2.1.1 3.99E-06
1487 31 E/G 45 rs1561308394 0.6693 None gnomAD-4.0.0 1.59073E-06
1488 32 T/A 46 rs146732280 0.2441 None gnomAD-2.1.1 1.77E-05
1488 32 T/A 46 rs146732280 0.2441 None gnomAD-3.1.2 5.91E-05
1488 32 T/A 46 rs146732280 0.2441 None gnomAD-4.0.0 9.91332E-05
1488 32 T/K 46 None 0.2441 None gnomAD-2.1.1 3.99E-06
1488 32 T/K 46 None 0.2441 None gnomAD-4.0.0 6.84118E-07
1488 32 T/M 46 rs111282958 0.2441 None gnomAD-2.1.1 1.77E-05
1488 32 T/M 46 rs111282958 0.2441 None gnomAD-3.1.2 3.29E-05
1488 32 T/M 46 rs111282958 0.2441 None 1000 genomes 1.99681E-04
1488 32 T/M 46 rs111282958 0.2441 None gnomAD-4.0.0 7.00113E-05
1491 35 F/L 49 None 0.1930 None gnomAD-4.0.0 2.40064E-06
1492 36 H/L 50 rs370564790 0.1684 None gnomAD-2.1.1 3.99E-06
1492 36 H/L 50 rs370564790 0.1684 None gnomAD-4.0.0 1.20032E-06
1492 36 H/R 50 rs370564790 0.1684 None gnomAD-3.1.2 6.57E-06
1492 36 H/R 50 rs370564790 0.1684 None gnomAD-4.0.0 6.56789E-06
1494 38 G/C 52 rs774506028 0.4504 None gnomAD-2.1.1 1.2E-05
1494 38 G/C 52 rs774506028 0.4504 None gnomAD-4.0.0 1.36828E-06
1494 38 G/S 52 rs774506028 0.4504 None gnomAD-2.1.1 3.99E-06
1494 38 G/S 52 rs774506028 0.4504 None gnomAD-3.1.2 6.57E-06
1494 38 G/S 52 rs774506028 0.4504 None gnomAD-4.0.0 2.47856E-06
1496 40 Q/H 56 rs1451784393 0.4103 None gnomAD-2.1.1 3.99E-06
1496 40 Q/H 56 rs1451784393 0.4103 None gnomAD-4.0.0 1.59107E-06
1498 42 V/A 59 rs878871703 0.7494 None gnomAD-4.0.0 4.78917E-06
1498 42 V/D 59 rs878871703 0.7494 None gnomAD-2.1.1 3.18E-05
1498 42 V/D 59 rs878871703 0.7494 None gnomAD-3.1.2 6.57E-06
1498 42 V/D 59 rs878871703 0.7494 None gnomAD-4.0.0 6.56996E-06
1498 42 V/I 59 None 0.7494 None gnomAD-4.0.0 1.59105E-06
1499 43 N/S 70 rs745448931 0.5680 None gnomAD-2.1.1 3.99E-06
1499 43 N/S 70 rs745448931 0.5680 None gnomAD-4.0.0 2.0525E-06
1502 46 T/I 115 None 0.3076 None gnomAD-4.0.0 1.36835E-06
1502 46 T/N 115 rs2092362672 0.3076 None gnomAD-4.0.0 1.36835E-06
1503 47 H/R 121 None 0.2393 None gnomAD-4.0.0 2.05249E-06
1505 49 V/L 123 rs756907114 0.2725 None gnomAD-2.1.1 7.97E-06
1505 49 V/L 123 rs756907114 0.2725 None gnomAD-4.0.0 1.43674E-05
1509 53 E/A 130 rs794729575 1.0724 None gnomAD-4.0.0 1.36832E-06
1509 53 E/G 130 rs794729575 1.0724 None gnomAD-2.1.1 3.99E-06
1509 53 E/G 130 rs794729575 1.0724 None gnomAD-4.0.0 7.52574E-06
1509 53 E/K 130 rs1270432206 1.0724 None gnomAD-3.1.2 1.31E-05
1509 53 E/K 130 rs1270432206 1.0724 None gnomAD-4.0.0 6.8162E-06
1510 54 D/G 131 rs878911201 0.4079 None gnomAD-2.1.1 7.09E-06
1510 54 D/G 131 rs878911201 0.4079 None gnomAD-3.1.2 3.28E-05
1510 54 D/G 131 rs878911201 0.4079 None gnomAD-4.0.0 8.67481E-06
1510 54 D/H 131 None 0.4079 None gnomAD-4.0.0 1.59102E-06
1511 55 G/A 134 rs751606948 0.1320 None gnomAD-2.1.1 3.99E-06
1511 55 G/A 134 rs751606948 0.1320 None gnomAD-4.0.0 1.36835E-06
1511 55 G/D 134 rs751606948 0.1320 None gnomAD-2.1.1 1.42E-05
1511 55 G/D 134 rs751606948 0.1320 None gnomAD-3.1.2 2.63E-05
1511 55 G/D 134 rs751606948 0.1320 None gnomAD-4.0.0 4.46159E-05
1511 55 G/S 134 rs1045727624 0.1320 None gnomAD-4.0.0 1.20032E-06
1512 56 T/A 135 None 0.2223 None gnomAD-4.0.0 1.20032E-06
1512 56 T/I 135 rs375794484 0.2223 None gnomAD-2.1.1 1.6E-05
1512 56 T/I 135 rs375794484 0.2223 None gnomAD-3.1.2 3.29E-05
1512 56 T/I 135 rs375794484 0.2223 None 1000 genomes 3.99361E-04
1512 56 T/I 135 rs375794484 0.2223 None gnomAD-4.0.0 7.68456E-06
1512 56 T/P 135 None 0.2223 None gnomAD-4.0.0 1.20032E-06
1513 57 Q/H 136 None 0.1647 None gnomAD-4.0.0 1.20032E-06
1513 57 Q/R 136 rs1387578127 0.1647 None gnomAD-2.1.1 1.2E-05
1513 57 Q/R 136 rs1387578127 0.1647 None gnomAD-4.0.0 6.36444E-06
1515 59 L/V 138 None 0.0837 None gnomAD-4.0.0 6.8419E-07
1516 60 I/F 139 None 0.2443 None gnomAD-4.0.0 6.84197E-07
1516 60 I/T 139 rs1464496143 0.2443 None gnomAD-2.1.1 3.99E-06
1516 60 I/T 139 rs1464496143 0.2443 None gnomAD-3.1.2 6.57E-06
1516 60 I/T 139 rs1464496143 0.2443 None gnomAD-4.0.0 1.48716E-05
1516 60 I/V 139 rs1184288875 0.2443 None gnomAD-2.1.1 1.77E-05
1516 60 I/V 139 rs1184288875 0.2443 None gnomAD-3.1.2 1.97E-05
1516 60 I/V 139 rs1184288875 0.2443 None gnomAD-4.0.0 4.46156E-05
1517 61 I/M 140 rs1438474327 0.1007 None gnomAD-2.1.1 3.18E-05
1517 61 I/M 140 rs1438474327 0.1007 None gnomAD-3.1.2 6.57E-06
1517 61 I/M 140 rs1438474327 0.1007 None gnomAD-4.0.0 2.02973E-06
1518 62 V/A 141 rs752482916 0.4100 None gnomAD-4.0.0 1.2448E-04
1518 62 V/F 141 rs755962102 0.4100 None gnomAD-2.1.1 3.99E-06
1518 62 V/F 141 rs755962102 0.4100 None gnomAD-4.0.0 1.59128E-06
1518 62 V/I 141 None 0.4100 None gnomAD-2.1.1 7.1E-06
1518 62 V/I 141 None 0.4100 None gnomAD-3.1.2 1.97E-05
1518 62 V/I 141 None 0.4100 None gnomAD-4.0.0 6.40553E-06
1519 63 P/S 143 None 0.5324 None gnomAD-4.0.0 1.59121E-06
1520 64 A/T 144 rs1060500440 0.1073 None gnomAD-2.1.1 3.99E-06
1520 64 A/T 144 rs1060500440 0.1073 None gnomAD-3.1.2 6.57E-06
1520 64 A/T 144 rs1060500440 0.1073 None gnomAD-4.0.0 9.91505E-06
1520 64 A/V 144 None 0.1073 None gnomAD-4.0.0 3.60097E-06
1521 65 T/I 145 None 0.2746 None gnomAD-4.0.0 2.40067E-06
1521 65 T/P 145 rs1574674545 0.2746 None gnomAD-4.0.0 1.59124E-06
1522 66 P/L 146 None 0.3242 None gnomAD-4.0.0 1.20032E-06
1522 66 P/S 146 rs1261123391 0.3242 None gnomAD-2.1.1 3.99E-06
1522 66 P/S 146 rs1261123391 0.3242 None gnomAD-4.0.0 1.59127E-06
1524 68 D/G 149 rs1244905909 0.1847 None gnomAD-2.1.1 7.98E-06
1524 68 D/G 149 rs1244905909 0.1847 None gnomAD-4.0.0 9.54596E-06
1526 70 G/E 152 None 0.1997 None gnomAD-4.0.0 1.32035E-05
1527 71 E/G 153 None 0.4846 None gnomAD-4.0.0 1.59098E-06
1529 73 T/I 155 None 0.2086 None gnomAD-4.0.0 1.20032E-06
1529 73 T/S 155 None 0.2086 None gnomAD-4.0.0 1.36832E-06
1531 75 V/D 157 rs794727429 0.1375 None gnomAD-4.0.0 1.20032E-06
1531 75 V/F 157 None 0.1375 None gnomAD-4.0.0 6.84176E-07
1531 75 V/I 157 rs1246164291 0.1375 None gnomAD-2.1.1 3.99E-06
1531 75 V/I 157 rs1246164291 0.1375 None gnomAD-4.0.0 6.84176E-07
1532 76 A/T 158 None 0.0837 None gnomAD-4.0.0 1.20032E-06
1533 77 Q/H 159 None 0.4752 None gnomAD-4.0.0 1.59105E-06
1533 77 Q/R 159 None 0.4752 None gnomAD-4.0.0 1.20032E-06
1534 78 N/K 161 None 0.1345 None gnomAD-4.0.0 3.42088E-06
1534 78 N/T 161 None 0.1345 None gnomAD-4.0.0 1.20032E-06
1535 79 R/G 162 rs2092354314 0.9142 None gnomAD-4.0.0 3.42088E-06
1535 79 R/K 162 None 0.9142 None gnomAD-4.0.0 1.59112E-06
1536 80 A/S 163 rs879055295 0.6467 None gnomAD-2.1.1 3.19E-05
1536 80 A/S 163 rs879055295 0.6467 None gnomAD-3.1.2 6.57E-06
1536 80 A/S 163 rs879055295 0.6467 None gnomAD-4.0.0 6.57333E-06
1536 80 A/T 163 rs879055295 0.6467 None gnomAD-2.1.1 3.99E-06
1536 80 A/V 163 None 0.6467 None gnomAD-4.0.0 9.57875E-06
1538 82 R/G 165 rs766463184 0.5581 None gnomAD-2.1.1 1.6E-05
1538 82 R/G 165 rs766463184 0.5581 None gnomAD-3.1.2 6.57E-06
1538 82 R/G 165 rs766463184 0.5581 None gnomAD-4.0.0 7.68586E-06
1538 82 R/I 165 rs753961168 0.5581 None gnomAD-4.0.0 2.05264E-06
1540 84 S/L 168 rs2092352541 0.4322 None gnomAD-4.0.0 1.20032E-06
1541 85 I/M 169 None 0.2105 None gnomAD-4.0.0 2.40064E-06
1541 85 I/T 169 rs1293333289 0.2105 None gnomAD-2.1.1 4E-06
1541 85 I/T 169 rs1293333289 0.2105 None gnomAD-4.0.0 3.18263E-06
1542 86 S/A 171 None 0.3297 None gnomAD-4.0.0 1.59132E-06
1544 88 I/V 173 rs72647877 0.6251 None gnomAD-2.1.1 5.63032E-03
1544 88 I/V 173 rs72647877 0.6251 None gnomAD-3.1.2 1.16702E-02
1544 88 I/V 173 rs72647877 0.6251 None 1000 genomes 1.19808E-02
1544 88 I/V 173 rs72647877 0.6251 None gnomAD-4.0.0 3.45281E-03
1546 90 T/A 175 None 0.3836 None gnomAD-4.0.0 1.20032E-06
1547 91 V/M 177 None 0.1123 None gnomAD-2.1.1 2.41E-05
1547 91 V/M 177 None 0.1123 None gnomAD-4.0.0 7.5274E-06