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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
6481 1 P/S 1 rs73038342 0.1224 None gnomAD-3.1.2 6.57E-06
6481 1 P/S 1 rs73038342 0.1224 None 1000 genomes 1.99681E-04
6481 1 P/T 1 rs73038342 0.1224 None gnomAD-2.1.1 8.18E-05
6481 1 P/T 1 rs73038342 0.1224 None gnomAD-3.1.2 5.92E-05
6481 1 P/T 1 rs73038342 0.1224 None gnomAD-4.0.0 8.62227E-05
6482 2 S/P 2 rs1560758702 0.2978 None gnomAD-4.0.0 1.20032E-06
6483 3 F/L 3 rs373750655 0.1368 None gnomAD-2.1.1 2.58E-05
6483 3 F/L 3 rs373750655 0.1368 None gnomAD-3.1.2 6.57E-06
6483 3 F/L 3 rs373750655 0.1368 None gnomAD-4.0.0 3.81018E-05
6484 4 T/A 4 rs1425867664 0.3172 None gnomAD-2.1.1 4.28E-06
6484 4 T/A 4 rs1425867664 0.3172 None gnomAD-4.0.0 1.62217E-06
6485 5 K/R 5 None 0.3254 None gnomAD-4.0.0 1.20032E-06
6486 6 K/Q 7 None 0.4813 None gnomAD-4.0.0 1.619E-06
6486 6 K/R 7 rs1168625867 0.4813 None gnomAD-2.1.1 4.26E-06
6486 6 K/R 7 rs1168625867 0.4813 None gnomAD-3.1.2 6.57E-06
6486 6 K/R 7 rs1168625867 0.4813 None gnomAD-4.0.0 6.8615E-06
6487 7 L/I 8 None 0.1957 None gnomAD-4.0.0 6.89078E-07
6488 8 T/N 9 rs2079735151 0.6671 None gnomAD-4.0.0 1.61567E-06
6489 9 K/E 11 None 0.5010 None gnomAD-4.0.0 1.61465E-06
6490 10 M/I 13 rs746981434 0.1875 None gnomAD-2.1.1 4.21E-06
6490 10 M/I 13 rs746981434 0.1875 None gnomAD-4.0.0 4.83993E-06
6490 10 M/T 13 rs769527897 0.1875 None gnomAD-2.1.1 8.48E-06
6490 10 M/T 13 rs769527897 0.1875 None gnomAD-3.1.2 6.57E-06
6490 10 M/T 13 rs769527897 0.1875 None gnomAD-4.0.0 4.364E-06
6491 11 D/G 14 rs747741123 0.4693 None gnomAD-2.1.1 8.39E-06
6491 11 D/G 14 rs747741123 0.4693 None gnomAD-4.0.0 2.06356E-06
6491 11 D/N 14 rs2079733131 0.4693 None gnomAD-3.1.2 6.58E-06
6491 11 D/N 14 rs2079733131 0.4693 None gnomAD-4.0.0 6.5754E-06
6491 11 D/Y 14 None 0.4693 None gnomAD-4.0.0 1.20032E-06
6492 12 K/E 16 rs781106189 0.4125 None gnomAD-2.1.1 1.26E-05
6492 12 K/E 16 rs781106189 0.4125 None gnomAD-4.0.0 1.03148E-05
6494 14 L/R 23 rs376857772 0.5423 None gnomAD-2.1.1 9.52E-05
6494 14 L/R 23 rs376857772 0.5423 None gnomAD-3.1.2 5.91E-05
6494 14 L/R 23 rs376857772 0.5423 None 1000 genomes 3.99361E-04
6494 14 L/R 23 rs376857772 0.5423 None gnomAD-4.0.0 2.67282E-05
6495 15 G/A 24 rs182633829 0.3017 None gnomAD-2.1.1 4.13E-06
6495 15 G/A 24 rs182633829 0.3017 None gnomAD-3.1.2 6.58E-06
6495 15 G/A 24 rs182633829 0.3017 None 1000 genomes 1.99681E-04
6495 15 G/A 24 rs182633829 0.3017 None gnomAD-4.0.0 3.86666E-06
6495 15 G/D 24 rs182633829 0.3017 None gnomAD-3.1.2 6.58E-06
6495 15 G/D 24 rs182633829 0.3017 None gnomAD-4.0.0 6.57601E-06
6496 16 S/F 25 rs376604816 0.2424 None gnomAD-2.1.1 1.23E-05
6496 16 S/F 25 rs376604816 0.2424 None gnomAD-4.0.0 7.53771E-06
6497 17 S/C 26 None 0.3793 None gnomAD-4.0.0 2.74095E-06
6498 18 I/T 28 None 0.1650 None gnomAD-4.0.0 4.79111E-06
6499 19 H/L 29 rs375173049 0.4308 None gnomAD-2.1.1 3.25E-05
6499 19 H/L 29 rs375173049 0.4308 None gnomAD-3.1.2 1.18312E-04
6499 19 H/L 29 rs375173049 0.4308 None gnomAD-4.0.0 1.79944E-05
6500 20 M/V 30 None 0.0901 None gnomAD-4.0.0 1.59478E-06
6502 22 C/Y 33 None 0.0791 None gnomAD-4.0.0 1.59346E-06
6503 23 K/E 34 None 0.2497 None gnomAD-4.0.0 1.59321E-06
6504 24 V/L 35 rs762156103 0.1345 None gnomAD-2.1.1 4.05E-06
6504 24 V/L 35 rs762156103 0.1345 None gnomAD-4.0.0 6.84548E-07
6505 25 S/F 38 rs1414011435 0.2466 None gnomAD-2.1.1 4.04E-06
6505 25 S/F 38 rs1414011435 0.2466 None gnomAD-4.0.0 1.593E-06
6506 26 G/D 40 rs1401335381 0.1937 None gnomAD-2.1.1 8.08E-06
6506 26 G/D 40 rs1401335381 0.1937 None gnomAD-4.0.0 2.05353E-06
6508 28 L/V 42 None 0.4966 None gnomAD-4.0.0 1.59281E-06
6509 29 P/L 43 None 0.7639 None gnomAD-4.0.0 1.20032E-06
6509 29 P/S 43 rs764314153 0.7639 None gnomAD-2.1.1 8.08E-06
6509 29 P/S 43 rs764314153 0.7639 None gnomAD-3.1.2 6.58E-06
6509 29 P/S 43 rs764314153 0.7639 None gnomAD-4.0.0 3.09976E-06
6510 30 I/T 44 rs775784361 0.2214 None gnomAD-2.1.1 4.04E-06
6510 30 I/T 44 rs775784361 0.2214 None gnomAD-3.1.2 6.57E-06
6510 30 I/T 44 rs775784361 0.2214 None gnomAD-4.0.0 2.5641E-06
6510 30 I/V 44 rs761041978 0.2214 None gnomAD-2.1.1 1.43E-05
6510 30 I/V 44 rs761041978 0.2214 None gnomAD-3.1.2 2.63E-05
6510 30 I/V 44 rs761041978 0.2214 None gnomAD-4.0.0 3.84345E-05
6512 32 A/S 46 rs2079716781 0.3480 None gnomAD-4.0.0 1.36892E-06
6512 32 A/V 46 rs200902581 0.3480 None gnomAD-2.1.1 1.61E-05
6512 32 A/V 46 rs200902581 0.3480 None gnomAD-4.0.0 6.16005E-06
6514 34 W/C 48 None 0.1165 None gnomAD-4.0.0 4.79107E-06
6514 34 W/L 48 rs760007747 0.1165 None gnomAD-2.1.1 2.51E-05
6514 34 W/L 48 rs760007747 0.1165 None gnomAD-3.1.2 5.26E-05
6514 34 W/L 48 rs760007747 0.1165 None gnomAD-4.0.0 5.20729E-05
6516 36 K/E 50 rs1469339610 0.1589 None gnomAD-3.1.2 6.57E-06
6516 36 K/E 50 rs1469339610 0.1589 None gnomAD-4.0.0 6.57333E-06
6516 36 K/M 50 rs199796249 0.1589 None gnomAD-2.1.1 1.50381E-04
6516 36 K/M 50 rs199796249 0.1589 None gnomAD-3.1.2 2.4979E-04
6516 36 K/M 50 rs199796249 0.1589 None gnomAD-4.0.0 3.69456E-04
6517 37 D/G 51 rs904836264 0.5842 None gnomAD-4.0.0 1.36884E-06
6518 38 G/R 52 None 0.4216 None gnomAD-4.0.0 1.59247E-06
6519 39 K/I 55 None 0.7879 None gnomAD-4.0.0 2.40064E-06
6521 41 I/M 58 rs747626326 0.1233 None gnomAD-2.1.1 8.06E-06
6521 41 I/M 58 rs747626326 0.1233 None gnomAD-4.0.0 1.5924E-06
6521 41 I/T 58 rs769180915 0.1233 None gnomAD-2.1.1 4.03E-06
6521 41 I/T 58 rs769180915 0.1233 None gnomAD-4.0.0 1.59237E-06
6522 42 S/P 59 rs780721181 0.6695 None gnomAD-2.1.1 4.03E-06
6522 42 S/P 59 rs780721181 0.6695 None gnomAD-4.0.0 1.59238E-06
6522 42 S/Y 59 rs768370268 0.6695 None gnomAD-2.1.1 4.03E-06
6522 42 S/Y 59 rs768370268 0.6695 None gnomAD-3.1.2 6.57E-06
6522 42 S/Y 59 rs768370268 0.6695 None gnomAD-4.0.0 1.85969E-06
6523 43 T/A 70 rs1560756818 0.5031 None gnomAD-4.0.0 2.73774E-06
6523 43 T/P 70 None 0.5031 None gnomAD-4.0.0 6.84435E-07
6525 45 A/T 111 rs1578118075 0.8089 None gnomAD-4.0.0 1.59256E-06
6525 45 A/V 111 None 0.8089 None gnomAD-4.0.0 1.59254E-06
6528 48 R/K 122 rs779960008 0.6555 None gnomAD-2.1.1 4.03E-06
6528 48 R/K 122 rs779960008 0.6555 None gnomAD-4.0.0 1.59265E-06
6529 49 L/F 123 rs758456020 0.2747 None gnomAD-2.1.1 1.21E-05
6529 49 L/F 123 rs758456020 0.2747 None gnomAD-4.0.0 7.9629E-06
6530 50 V/A 125 rs1447296765 0.4729 None gnomAD-2.1.1 8.07E-06
6530 50 V/A 125 rs1447296765 0.4729 None gnomAD-4.0.0 4.7781E-06
6530 50 V/M 125 rs1215350767 0.4729 None gnomAD-2.1.1 3.19E-05
6530 50 V/M 125 rs1215350767 0.4729 None gnomAD-3.1.2 6.58E-06
6530 50 V/M 125 rs1215350767 0.4729 None gnomAD-4.0.0 6.57505E-06
6532 52 H/L 130 None 0.7486 None gnomAD-4.0.0 1.59275E-06
6533 53 E/D 131 None 0.5545 None gnomAD-4.0.0 1.59273E-06
6533 53 E/K 131 rs886042142 0.5545 None gnomAD-3.1.2 6.57E-06
6533 53 E/K 131 rs886042142 0.5545 None gnomAD-4.0.0 1.85978E-06
6533 53 E/Q 131 None 0.5545 None gnomAD-4.0.0 2.05346E-06
6535 55 S/T 135 None 0.2301 None gnomAD-4.0.0 6.84502E-07
6536 56 V/A 136 rs1344640559 0.1511 None gnomAD-2.1.1 3.19E-05
6536 56 V/A 136 rs1344640559 0.1511 None gnomAD-3.1.2 6.57E-06
6536 56 V/A 136 rs1344640559 0.1511 None gnomAD-4.0.0 6.57324E-06
6536 56 V/M 136 None 0.1511 None gnomAD-4.0.0 1.5929E-06
6537 57 S/P 137 None 0.1276 None gnomAD-4.0.0 1.20032E-06
6538 58 L/P 138 rs1376037086 0.0611 None gnomAD-4.0.0 4.77943E-06
6539 59 E/D 139 None 0.3249 None gnomAD-4.0.0 2.40065E-06
6540 60 V/A 140 rs1045155829 0.0961 None gnomAD-4.0.0 2.40064E-06
6540 60 V/I 140 rs1157784163 0.0961 None gnomAD-2.1.1 4.04E-06
6540 60 V/I 140 rs1157784163 0.0961 None gnomAD-3.1.2 6.57E-06
6540 60 V/I 140 rs1157784163 0.0961 None gnomAD-4.0.0 1.24006E-06
6541 61 N/D 141 rs1448829330 0.5120 None gnomAD-3.1.2 6.57E-06
6541 61 N/D 141 rs1448829330 0.5120 None gnomAD-4.0.0 6.57376E-06
6542 62 N/K 143 rs374003118 0.5998 None gnomAD-2.1.1 4.04E-06
6542 62 N/Y 143 rs750316803 0.5998 None gnomAD-2.1.1 4.04E-06
6542 62 N/Y 143 rs750316803 0.5998 None gnomAD-4.0.0 1.59365E-06
6543 63 L/M 144 rs1578117153 0.0998 None gnomAD-4.0.0 1.59379E-06
6548 68 T/I 151 None 0.3203 None gnomAD-4.0.0 6.84919E-07
6548 68 T/S 151 rs369899924 0.3203 None gnomAD-2.1.1 8.1E-06
6548 68 T/S 151 rs369899924 0.3203 None gnomAD-4.0.0 2.05476E-06
6550 70 N/D 153 rs1333479032 0.3899 None gnomAD-4.0.0 4.11047E-06
6551 71 Y/C 154 None 0.1094 None gnomAD-4.0.0 1.20032E-06
6551 71 Y/H 154 None 0.1094 None gnomAD-4.0.0 1.59671E-06
6553 73 C/F 156 None 0.0631 None gnomAD-4.0.0 1.60017E-06
6553 73 C/G 156 rs377449031 0.0631 None gnomAD-4.0.0 1.59863E-06
6553 73 C/R 156 rs377449031 0.0631 None gnomAD-2.1.1 4.07E-06
6553 73 C/R 156 rs377449031 0.0631 None gnomAD-4.0.0 1.59863E-06
6554 74 K/R 157 rs2079687407 0.3677 None gnomAD-3.1.2 6.57E-06
6554 74 K/R 157 rs2079687407 0.3677 None gnomAD-4.0.0 1.86322E-06
6555 75 V/L 158 rs753901455 0.0988 None gnomAD-4.0.0 2.33303E-05
6555 75 V/M 158 rs753901455 0.0988 None gnomAD-2.1.1 2.04E-05
6555 75 V/M 158 rs753901455 0.0988 None gnomAD-4.0.0 1.30375E-05
6556 76 S/L 159 rs2154306280 0.2682 None gnomAD-4.0.0 2.33534E-05
6556 76 S/P 159 None 0.2682 None gnomAD-4.0.0 1.6052E-06
6557 77 N/S 161 rs764245160 0.1398 None gnomAD-2.1.1 4.1E-06
6557 77 N/S 161 rs764245160 0.1398 None gnomAD-3.1.2 6.57E-06
6557 77 N/S 161 rs764245160 0.1398 None gnomAD-4.0.0 6.45303E-06
6558 78 V/I 162 rs879223660 0.8349 None gnomAD-2.1.1 4.11E-06
6558 78 V/I 162 rs879223660 0.8349 None gnomAD-3.1.2 3.29E-05
6558 78 V/I 162 rs879223660 0.8349 None gnomAD-4.0.0 3.73447E-06
6559 79 A/P 163 None 0.3273 None gnomAD-4.0.0 1.61547E-06
6561 81 D/N 165 rs938213426 0.6174 None gnomAD-4.0.0 2.06911E-06
6562 82 D/V 166 None 0.2575 None gnomAD-4.0.0 4.87976E-06
6564 84 C/F 169 None 0.0974 None gnomAD-4.0.0 6.93134E-07
6566 86 G/A 172 rs1052515116 0.1405 None gnomAD-2.1.1 5.68E-05
6566 86 G/A 172 rs1052515116 0.1405 None gnomAD-3.1.2 2.63E-05
6566 86 G/A 172 rs1052515116 0.1405 None gnomAD-4.0.0 1.19719E-05
6566 86 G/D 172 rs1052515116 0.1405 None gnomAD-3.1.2 6.58E-06
6566 86 G/D 172 rs1052515116 0.1405 None gnomAD-4.0.0 5.04079E-06
6566 86 G/S 172 rs774723988 0.1405 None gnomAD-2.1.1 8.7E-06
6566 86 G/S 172 rs774723988 0.1405 None gnomAD-4.0.0 6.2682E-06
6567 87 I/S 173 None 0.5261 None gnomAD-4.0.0 7.01308E-07
6567 87 I/T 173 rs1355956536 0.5261 None gnomAD-2.1.1 4.52E-06
6567 87 I/T 173 rs1355956536 0.5261 None gnomAD-4.0.0 2.80523E-06
6567 87 I/V 173 rs1415509567 0.5261 None gnomAD-2.1.1 4.5E-06
6567 87 I/V 173 rs1415509567 0.5261 None gnomAD-4.0.0 1.40212E-06
6568 88 L/S 174 rs1297518586 0.1039 None gnomAD-4.0.0 1.69465E-06
6569 89 T/A 175 rs1428304417 0.2483 None gnomAD-2.1.1 4.61E-06
6569 89 T/A 175 rs1428304417 0.2483 None gnomAD-4.0.0 1.70176E-06
6569 89 T/I 175 None 0.2483 None gnomAD-4.0.0 1.70386E-06
6570 90 V/A 177 None 0.1153 None gnomAD-4.0.0 6.39828E-06