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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 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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
1556 1 P/L 1 rs569025335 0.1661 None gnomAD-2.1.1 7.1E-06
1556 1 P/L 1 rs569025335 0.1661 None gnomAD-3.1.2 6.57E-06
1556 1 P/L 1 rs569025335 0.1661 None 1000 genomes 1.99681E-04
1556 1 P/L 1 rs569025335 0.1661 None gnomAD-4.0.0 9.91446E-06
1556 1 P/Q 1 None 0.1661 None gnomAD-2.1.1 7.99E-06
1556 1 P/Q 1 None 0.1661 None gnomAD-4.0.0 2.73681E-06
1556 1 P/R 1 rs569025335 0.1661 None gnomAD-3.1.2 6.57E-06
1556 1 P/R 1 rs569025335 0.1661 None gnomAD-4.0.0 1.2394E-06
1557 2 M/I 2 rs139192633 0.6881 None gnomAD-2.1.1 3.08727E-04
1557 2 M/I 2 rs139192633 0.6881 None gnomAD-3.1.2 8.67439E-04
1557 2 M/I 2 rs139192633 0.6881 None 1000 genomes 1.99681E-04
1557 2 M/I 2 rs139192633 0.6881 None gnomAD-4.0.0 1.86503E-04
1557 2 M/T 2 rs1270728521 0.6881 None gnomAD-4.0.0 6.00161E-06
1559 4 V/A 4 rs1262171318 0.4690 None gnomAD-3.1.2 6.57E-06
1559 4 V/A 4 rs1262171318 0.4690 None gnomAD-4.0.0 3.09817E-06
1559 4 V/G 4 rs1262171318 0.4690 None gnomAD-2.1.1 3.99E-06
1559 4 V/G 4 rs1262171318 0.4690 None gnomAD-4.0.0 6.84162E-07
1559 4 V/I 4 rs538451328 0.4690 None gnomAD-2.1.1 3.99E-06
1559 4 V/I 4 rs538451328 0.4690 None gnomAD-3.1.2 6.57E-06
1559 4 V/I 4 rs538451328 0.4690 None 1000 genomes 1.99681E-04
1559 4 V/I 4 rs538451328 0.4690 None gnomAD-4.0.0 6.56625E-06
1562 7 L/M 8 None 0.2301 None gnomAD-4.0.0 1.59087E-06
1562 7 L/P 8 rs562318663 0.2301 None gnomAD-4.0.0 1.59088E-06
1562 7 L/V 8 rs1221271314 0.2301 None gnomAD-2.1.1 3.99E-06
1562 7 L/V 8 rs1221271314 0.2301 None gnomAD-4.0.0 1.59087E-06
1563 8 K/N 9 None 0.8667 None gnomAD-4.0.0 1.59083E-06
1565 10 V/A 13 rs1441856975 0.3504 None gnomAD-2.1.1 3.99E-06
1565 10 V/A 13 rs1441856975 0.3504 None gnomAD-4.0.0 1.36825E-06
1565 10 V/D 13 rs1441856975 0.3504 None gnomAD-3.1.2 6.57E-06
1565 10 V/D 13 rs1441856975 0.3504 None gnomAD-4.0.0 4.33723E-06
1565 10 V/I 13 rs762529971 0.3504 None gnomAD-2.1.1 1.2E-05
1565 10 V/I 13 rs762529971 0.3504 None gnomAD-3.1.2 6.57E-06
1565 10 V/I 13 rs762529971 0.3504 None gnomAD-4.0.0 2.60237E-05
1566 11 N/D 14 None 0.6070 None gnomAD-4.0.0 1.59081E-06
1567 12 I/K 16 None 0.1599 None gnomAD-4.0.0 1.59077E-06
1567 12 I/R 16 None 0.1599 None gnomAD-4.0.0 1.59077E-06
1567 12 I/T 16 rs145957227 0.1599 None gnomAD-2.1.1 7.98E-06
1567 12 I/T 16 rs145957227 0.1599 None gnomAD-3.1.2 6.57E-06
1567 12 I/T 16 rs145957227 0.1599 None gnomAD-4.0.0 7.68423E-06
1568 13 K/E 18 None 0.7965 None gnomAD-4.0.0 1.20032E-06
1568 13 K/N 18 rs1392098085 0.7965 None gnomAD-2.1.1 3.99E-06
1568 13 K/R 18 None 0.7965 None gnomAD-4.0.0 6.84115E-07
1568 13 K/T 18 rs1331457272 0.7965 None gnomAD-2.1.1 3.99E-06
1568 13 K/T 18 rs1331457272 0.7965 None gnomAD-4.0.0 6.84115E-07
1570 15 G/A 24 rs199910114 0.3205 None gnomAD-2.1.1 6.38E-05
1570 15 G/A 24 rs199910114 0.3205 None gnomAD-3.1.2 9.86E-05
1570 15 G/A 24 rs199910114 0.3205 None 1000 genomes 3.99361E-04
1570 15 G/A 24 rs199910114 0.3205 None gnomAD-4.0.0 2.35433E-05
1570 15 G/C 24 None 0.3205 None gnomAD-4.0.0 3.18143E-06
1570 15 G/D 24 None 0.3205 None gnomAD-4.0.0 6.84106E-07
1570 15 G/S 24 rs1405416253 0.3205 None gnomAD-2.1.1 3.99E-06
1570 15 G/S 24 rs1405416253 0.3205 None gnomAD-4.0.0 1.59072E-06
1570 15 G/V 24 rs199910114 0.3205 None gnomAD-3.1.2 6.57E-06
1570 15 G/V 24 rs199910114 0.3205 None gnomAD-4.0.0 2.47842E-06
1571 16 S/F 25 None 0.2453 None gnomAD-4.0.0 6.84106E-07
1571 16 S/Y 25 None 0.2453 None gnomAD-4.0.0 1.36821E-06
1572 17 R/L 26 rs12476289 0.5013 None gnomAD-2.1.1 3.99E-06
1572 17 R/L 26 rs12476289 0.5013 None gnomAD-4.0.0 6.84101E-07
1572 17 R/P 26 None 0.5013 None gnomAD-4.0.0 2.0523E-06
1572 17 R/Q 26 rs12476289 0.5013 None gnomAD-2.1.1 7.52661E-02
1572 17 R/Q 26 rs12476289 0.5013 None gnomAD-3.1.2 4.97469E-02
1572 17 R/Q 26 rs12476289 0.5013 None 1000 genomes 7.52796E-02
1572 17 R/Q 26 rs12476289 0.5013 None gnomAD-4.0.0 5.23823E-02
1573 18 L/V 28 rs2092329719 0.1957 None gnomAD-3.1.2 6.57E-06
1573 18 L/V 28 rs2092329719 0.1957 None gnomAD-4.0.0 3.04489E-06
1574 19 E/V 29 None 0.4256 None gnomAD-4.0.0 1.59065E-06
1575 20 M/I 30 None 0.1430 None gnomAD-4.0.0 1.5907E-06
1576 21 K/N 31 rs1249517281 0.5206 None gnomAD-4.0.0 1.20041E-06
1576 21 K/T 31 rs201686366 0.5206 None gnomAD-2.1.1 3.98E-06
1576 21 K/T 31 rs201686366 0.5206 None gnomAD-4.0.0 1.59067E-06
1579 24 A/V 35 rs2092328380 0.1037 None gnomAD-4.0.0 2.05228E-06
1580 25 T/M 38 rs73973147 0.5481 None gnomAD-2.1.1 1.77738E-03
1580 25 T/M 38 rs73973147 0.5481 None gnomAD-3.1.2 5.1129E-03
1580 25 T/M 38 rs73973147 0.5481 None 1000 genomes 5.59105E-03
1580 25 T/M 38 rs73973147 0.5481 None gnomAD-4.0.0 1.07864E-03
1581 26 G/V 40 None 0.2636 None gnomAD-4.0.0 1.59064E-06
1582 27 N/D 41 None 0.8531 None gnomAD-4.0.0 1.36819E-06
1582 27 N/K 41 rs1183874678 0.8531 None gnomAD-2.1.1 3.98E-06
1582 27 N/K 41 rs1183874678 0.8531 None gnomAD-4.0.0 3.42047E-06
1583 28 P/H 42 rs2092326705 0.3971 None gnomAD-4.0.0 1.59063E-06
1583 28 P/S 42 rs1023231093 0.3971 None gnomAD-3.1.2 6.57E-06
1583 28 P/S 42 rs1023231093 0.3971 None gnomAD-4.0.0 2.02997E-06
1583 28 P/T 42 None 0.3971 None gnomAD-2.1.1 3.19E-05
1583 28 P/T 42 None 0.3971 None gnomAD-3.1.2 1.31E-05
1583 28 P/T 42 None 0.3971 None gnomAD-4.0.0 3.04495E-06
1584 29 N/K 43 rs879252955 0.4193 None gnomAD-2.1.1 7.08E-06
1584 29 N/K 43 rs879252955 0.4193 None gnomAD-3.1.2 1.31E-05
1584 29 N/K 43 rs879252955 0.4193 None gnomAD-4.0.0 5.12256E-06
1584 29 N/S 43 rs2092326509 0.4193 None gnomAD-3.1.2 6.57E-06
1584 29 N/S 43 rs2092326509 0.4193 None gnomAD-4.0.0 2.47832E-06
1586 31 D/E 45 None 0.4993 None gnomAD-4.0.0 1.20032E-06
1586 31 D/V 45 rs2092325791 0.4993 None gnomAD-4.0.0 2.05227E-06
1588 33 V/A 47 rs1561301529 0.4501 None gnomAD-4.0.0 1.59062E-06
1588 33 V/I 47 rs1375582195 0.4501 None gnomAD-3.1.2 1.31E-05
1588 33 V/I 47 rs1375582195 0.4501 None gnomAD-4.0.0 3.09789E-06
1588 33 V/L 47 rs1375582195 0.4501 None gnomAD-2.1.1 3.18E-05
1588 33 V/L 47 rs1375582195 0.4501 None gnomAD-3.1.2 6.57E-06
1588 33 V/L 47 rs1375582195 0.4501 None gnomAD-4.0.0 6.56953E-06
1589 34 W/R 48 None 0.1534 None gnomAD-4.0.0 1.59062E-06
1590 35 L/F 49 None 0.1818 None gnomAD-4.0.0 1.23138E-05
1591 36 K/R 50 rs1308021841 0.1096 None gnomAD-4.0.0 1.59064E-06
1594 39 D/H 55 rs2092324432 0.4167 None gnomAD-3.1.2 6.57E-06
1594 39 D/H 55 rs2092324432 0.4167 None gnomAD-4.0.0 6.56987E-06
1594 39 D/V 55 rs1024757348 0.4167 None gnomAD-2.1.1 3.98E-06
1594 39 D/V 55 rs1024757348 0.4167 None gnomAD-4.0.0 9.57735E-06
1595 40 I/S 56 rs1012905833 0.5879 None gnomAD-2.1.1 1.06E-05
1595 40 I/S 56 rs1012905833 0.5879 None gnomAD-3.1.2 1.31E-05
1595 40 I/S 56 rs1012905833 0.5879 None gnomAD-4.0.0 1.30114E-05
1595 40 I/V 56 None 0.5879 None gnomAD-4.0.0 1.59064E-06
1596 41 I/F 58 None 0.1370 None gnomAD-4.0.0 2.05229E-06
1596 41 I/V 58 rs750570694 0.1370 None gnomAD-2.1.1 3.98E-06
1596 41 I/V 58 rs750570694 0.1370 None gnomAD-4.0.0 6.84096E-07
1597 42 V/L 59 rs878928245 0.3881 None gnomAD-3.1.2 6.57E-06
1597 42 V/L 59 rs878928245 0.3881 None gnomAD-4.0.0 2.47836E-06
1598 43 P/L 70 None 0.6114 None gnomAD-4.0.0 1.20032E-06
1598 43 P/S 70 rs778940810 0.6114 None gnomAD-2.1.1 3.98E-06
1598 43 P/S 70 rs778940810 0.6114 None gnomAD-4.0.0 3.42052E-06
1599 44 H/Y 73 rs757510119 0.9791 None gnomAD-2.1.1 3.98E-06
1599 44 H/Y 73 rs757510119 0.9791 None gnomAD-3.1.2 6.57E-06
1599 44 H/Y 73 rs757510119 0.9791 None gnomAD-4.0.0 2.56127E-06
1600 45 K/E 109 None 0.3342 None gnomAD-4.0.0 1.59064E-06
1602 47 P/R 111 None 0.5900 None gnomAD-4.0.0 1.20032E-06
1602 47 P/S 111 rs2092321962 0.5900 None gnomAD-4.0.0 2.40064E-06
1603 48 K/N 115 rs764249850 0.7452 None gnomAD-2.1.1 7.96E-06
1603 48 K/N 115 rs764249850 0.7452 None gnomAD-4.0.0 1.5907E-06
1603 48 K/Q 115 rs754087999 0.7452 None gnomAD-2.1.1 2.39E-05
1603 48 K/Q 115 rs754087999 0.7452 None gnomAD-3.1.2 6.57E-06
1603 48 K/Q 115 rs754087999 0.7452 None gnomAD-4.0.0 1.67287E-05
1603 48 K/T 115 None 0.7452 None gnomAD-4.0.0 1.59069E-06
1604 49 I/V 121 rs1382643483 0.1542 None gnomAD-2.1.1 3.98E-06
1604 49 I/V 121 rs1382643483 0.1542 None gnomAD-4.0.0 1.59075E-06
1605 50 R/G 122 None 0.6470 None gnomAD-4.0.0 6.8411E-07
1609 54 T/N 130 None 0.6987 None gnomAD-4.0.0 6.84137E-07
1612 57 E/K 135 rs1445985420 0.4594 None gnomAD-2.1.1 1.2E-05
1612 57 E/K 135 rs1445985420 0.4594 None gnomAD-3.1.2 7.88E-05
1612 57 E/K 135 rs1445985420 0.4594 None gnomAD-4.0.0 2.17728E-05
1613 58 A/G 136 rs946583596 0.1564 None gnomAD-4.0.0 2.73656E-06
1613 58 A/P 136 rs757349504 0.1564 None gnomAD-4.0.0 6.84131E-07
1613 58 A/T 136 rs757349504 0.1564 None gnomAD-2.1.1 1.6E-05
1613 58 A/T 136 rs757349504 0.1564 None gnomAD-4.0.0 8.89371E-06
1615 60 L/F 138 rs777977684 0.0866 None gnomAD-2.1.1 4E-06
1615 60 L/F 138 rs777977684 0.0866 None gnomAD-4.0.0 6.1572E-06
1618 63 D/G 141 rs1324756385 0.5720 None gnomAD-3.1.2 6.57E-06
1618 63 D/G 141 rs1324756385 0.5720 None gnomAD-4.0.0 2.02977E-06
1618 63 D/H 141 None 0.5720 None gnomAD-4.0.0 6.84134E-07
1618 63 D/N 141 rs794727465 0.5720 None gnomAD-2.1.1 7.12E-06
1618 63 D/N 141 rs794727465 0.5720 None gnomAD-3.1.2 6.57E-06
1618 63 D/N 141 rs794727465 0.5720 None gnomAD-4.0.0 4.33748E-06
1618 63 D/Y 141 rs794727465 0.5720 None gnomAD-3.1.2 6.57E-06
1618 63 D/Y 141 rs794727465 0.5720 None gnomAD-4.0.0 1.23928E-06
1619 64 S/A 143 None 0.4122 None gnomAD-4.0.0 6.00161E-06
1620 65 T/A 144 None 0.1200 None gnomAD-4.0.0 1.59077E-06
1622 67 S/N 146 None 0.4312 None gnomAD-4.0.0 1.59079E-06
1622 67 S/R 146 rs2092294772 0.4312 None gnomAD-4.0.0 1.59079E-06
1624 69 D/N 149 None 0.1816 None gnomAD-4.0.0 1.59081E-06
1624 69 D/V 149 rs1290278898 0.1816 None gnomAD-2.1.1 4E-06
1624 69 D/V 149 rs1290278898 0.1816 None gnomAD-4.0.0 1.36823E-06
1625 70 S/C 151 rs185789611 0.3018 None gnomAD-2.1.1 3.91E-05
1625 70 S/C 151 rs185789611 0.3018 None gnomAD-3.1.2 3.29E-05
1625 70 S/C 151 rs185789611 0.3018 None 1000 genomes 1.99681E-04
1625 70 S/C 151 rs185789611 0.3018 None gnomAD-4.0.0 1.79674E-05
1626 71 A/S 152 rs1295070292 0.1064 None gnomAD-3.1.2 6.57E-06
1626 71 A/S 152 rs1295070292 0.1064 None gnomAD-4.0.0 6.57039E-06
1626 71 A/V 152 None 0.1064 None gnomAD-4.0.0 6.84139E-07
1627 72 W/R 153 None 0.4406 None gnomAD-4.0.0 1.59079E-06
1627 72 W/S 153 None 0.4406 None gnomAD-4.0.0 1.59083E-06
1628 73 Y/C 154 rs1272404083 0.1268 None gnomAD-2.1.1 4E-06
1628 73 Y/C 154 rs1272404083 0.1268 None gnomAD-3.1.2 6.57E-06
1628 73 Y/C 154 rs1272404083 0.1268 None gnomAD-4.0.0 4.05956E-06
1628 73 Y/F 154 rs1272404083 0.1268 None gnomAD-3.1.2 6.57E-06
1628 73 Y/F 154 rs1272404083 0.1268 None gnomAD-4.0.0 6.56953E-06
1629 74 T/A 155 None 0.1707 None gnomAD-4.0.0 1.59077E-06
1629 74 T/I 155 None 0.1707 None gnomAD-4.0.0 1.59084E-06
1630 75 A/V 156 rs371601918 0.0686 None gnomAD-2.1.1 8E-06
1630 75 A/V 156 rs371601918 0.0686 None gnomAD-3.1.2 1.97E-05
1630 75 A/V 156 rs371601918 0.0686 None gnomAD-4.0.0 8.05554E-06
1631 76 T/A 157 rs1270981853 0.2168 None gnomAD-2.1.1 4E-06
1631 76 T/A 157 rs1270981853 0.2168 None gnomAD-4.0.0 1.59088E-06
1632 77 A/T 158 rs1250136125 0.0658 None gnomAD-3.1.2 6.57E-06
1632 77 A/T 158 rs1250136125 0.0658 None gnomAD-4.0.0 2.56162E-06
1633 78 I/V 159 rs1406457857 0.3925 None gnomAD-2.1.1 3.18E-05
1633 78 I/V 159 rs1406457857 0.3925 None gnomAD-3.1.2 1.31E-05
1633 78 I/V 159 rs1406457857 0.3925 None gnomAD-4.0.0 3.84228E-06
1634 79 N/S 161 None 0.1360 None gnomAD-4.0.0 2.05245E-06
1635 80 K/E 162 rs776274777 0.9785 None gnomAD-2.1.1 7.99E-06
1635 80 K/E 162 rs776274777 0.9785 None gnomAD-4.0.0 3.18202E-06
1636 81 A/V 163 None 0.6219 None gnomAD-4.0.0 1.59102E-06
1637 82 G/D 164 None 0.2734 None gnomAD-4.0.0 1.36836E-06
1639 84 D/G 166 None 0.2283 None gnomAD-4.0.0 1.59118E-06
1639 84 D/V 166 rs760219634 0.2283 None gnomAD-2.1.1 3.99E-06
1639 84 D/V 166 rs760219634 0.2283 None gnomAD-4.0.0 1.59118E-06
1640 85 T/A 168 None 0.4879 None gnomAD-4.0.0 2.40064E-06
1640 85 T/I 168 rs1176072451 0.4879 None gnomAD-2.1.1 3.19E-05
1640 85 T/I 168 rs1176072451 0.4879 None gnomAD-3.1.2 6.57E-06
1640 85 T/I 168 rs1176072451 0.4879 None gnomAD-4.0.0 6.57298E-06
1641 86 T/I 169 rs775394529 0.1216 None gnomAD-2.1.1 7.99E-06
1641 86 T/I 169 rs775394529 0.1216 None gnomAD-3.1.2 6.57E-06
1641 86 T/I 169 rs775394529 0.1216 None gnomAD-4.0.0 7.43667E-06
1642 87 R/S 171 rs943254434 0.4186 None gnomAD-3.1.2 6.57E-06
1642 87 R/S 171 rs943254434 0.4186 None gnomAD-4.0.0 2.02984E-06
1643 88 C/R 172 None 0.0908 None gnomAD-4.0.0 1.59166E-06
1644 89 K/E 173 rs2092286862 0.4918 None gnomAD-4.0.0 1.59208E-06
1646 91 N/S 175 rs2092286263 0.3923 None gnomAD-4.0.0 1.59237E-06