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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 90 100
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 Y A P P K A E L D A R L H G D L V T I R A G S D L V L D A A V G G K P E P K I I W T K G D K E L D L C E K V S L Q Y T G K R A T A V I K F C D R S D S G K Y T L T V K N A S G T K A V S V M V K V L
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 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
31507 2 V/A 2 rs371097838 0.1374 None gnomAD-2.1.1 3.18E-05
31507 2 V/A 2 rs371097838 0.1374 None gnomAD-3.1.2 1.31E-05
31507 2 V/A 2 rs371097838 0.1374 None gnomAD-4.0.0 4.35404E-06
31508 3 D/E 3 rs727505200 0.3661 None gnomAD-2.1.1 1.57E-05
31508 3 D/E 3 rs727505200 0.3661 None gnomAD-3.1.2 2.63E-05
31508 3 D/E 3 rs727505200 0.3661 None gnomAD-4.0.0 1.70964E-05
31508 3 D/G 3 rs772571812 0.3661 None gnomAD-4.0.0 1.68489E-06
31511 6 G/D 6 None 0.2309 None gnomAD-4.0.0 1.66789E-06
31512 7 R/K 7 rs1186432203 0.4070 None gnomAD-2.1.1 4.38E-06
31512 7 R/K 7 rs1186432203 0.4070 None gnomAD-4.0.0 2.09324E-06
31514 9 E/Q 11 rs1697413804 0.7139 None gnomAD-4.0.0 1.65961E-06
31515 10 V/A 12 None 0.3084 None gnomAD-4.0.0 2.78047E-06
31516 11 T/A 13 None 0.3553 None gnomAD-4.0.0 1.65131E-06
31517 12 D/N 14 rs754507654 0.4407 None gnomAD-2.1.1 4.26E-06
31517 12 D/N 14 rs754507654 0.4407 None gnomAD-4.0.0 1.64601E-06
31518 13 V/A 15 rs377016580 0.2025 None gnomAD-2.1.1 1.45407E-04
31518 13 V/A 15 rs377016580 0.2025 None gnomAD-3.1.2 2.30024E-04
31518 13 V/A 15 rs377016580 0.2025 None gnomAD-4.0.0 3.16664E-04
31518 13 V/I 15 rs1697407245 0.2025 None gnomAD-4.0.0 1.38687E-06
31518 13 V/L 15 None 0.2025 None gnomAD-4.0.0 6.93437E-07
31519 14 T/K 16 rs554140295 0.2350 None gnomAD-2.1.1 4.21E-06
31519 14 T/K 16 rs554140295 0.2350 None gnomAD-3.1.2 6.57E-06
31519 14 T/K 16 rs554140295 0.2350 None gnomAD-4.0.0 1.88002E-06
31519 14 T/R 16 rs554140295 0.2350 None 1000 genomes 1.99681E-04
31520 15 R/K 17 rs879111902 0.5674 None gnomAD-3.1.2 6.57E-06
31520 15 R/K 17 rs879111902 0.5674 None gnomAD-4.0.0 3.75908E-06
31522 17 T/A 19 rs1697400184 0.2498 None gnomAD-4.0.0 2.40064E-06
31522 17 T/I 19 rs1360429703 0.2498 None gnomAD-2.1.1 4.16E-06
31522 17 T/I 19 rs1360429703 0.2498 None gnomAD-4.0.0 1.6296E-06
31523 18 V/A 20 None 0.0915 None gnomAD-4.0.0 1.62656E-06
31524 19 S/L 21 rs796571658 0.1233 None gnomAD-4.0.0 3.24899E-06
31524 19 S/P 21 rs1697398361 0.1233 None gnomAD-4.0.0 1.20032E-06
31525 20 L/M 22 rs1297210935 0.0840 None gnomAD-2.1.1 4.12E-06
31525 20 L/M 22 rs1297210935 0.0840 None gnomAD-4.0.0 1.62134E-06
31526 21 I/M 23 None 0.4025 None gnomAD-4.0.0 1.61651E-06
31526 21 I/V 23 rs534055493 0.4025 None gnomAD-2.1.1 1.23E-05
31526 21 I/V 23 rs534055493 0.4025 None gnomAD-3.1.2 6.57E-06
31526 21 I/V 23 rs534055493 0.4025 None 1000 genomes 1.99681E-04
31526 21 I/V 23 rs534055493 0.4025 None gnomAD-4.0.0 3.89599E-06
31527 22 W/L 24 rs758317232 0.0943 None gnomAD-2.1.1 4.09E-06
31529 24 A/T 26 rs947067361 0.3434 None gnomAD-4.0.0 1.37669E-06
31529 24 A/V 26 None 0.3434 None gnomAD-4.0.0 1.60904E-06
31531 26 A/E 28 rs1039995106 0.7076 None gnomAD-2.1.1 8.13E-06
31531 26 A/E 28 rs1039995106 0.7076 None gnomAD-3.1.2 1.31E-05
31531 26 A/E 28 rs1039995106 0.7076 None gnomAD-4.0.0 1.30583E-05
31531 26 A/T 28 rs765066425 0.7076 None gnomAD-2.1.1 3.97E-05
31531 26 A/T 28 rs765066425 0.7076 None gnomAD-3.1.2 2.63E-05
31531 26 A/T 28 rs765066425 0.7076 None gnomAD-4.0.0 8.70684E-06
31531 26 A/V 28 rs1039995106 0.7076 None gnomAD-2.1.1 3.18E-05
31531 26 A/V 28 rs1039995106 0.7076 None gnomAD-3.1.2 6.57E-06
31531 26 A/V 28 rs1039995106 0.7076 None gnomAD-4.0.0 1.86547E-06
31533 28 D/V 30 None 0.2590 None gnomAD-4.0.0 1.20032E-06
31535 30 G/S 32 None 0.5220 None gnomAD-4.0.0 6.8564E-07
31535 30 G/V 32 rs200302364 0.5220 None gnomAD-2.1.1 1.08E-05
31535 30 G/V 32 rs200302364 0.5220 None gnomAD-3.1.2 3.94E-05
31535 30 G/V 32 rs200302364 0.5220 None gnomAD-4.0.0 6.20706E-06
31537 32 K/N 34 None 0.7747 None gnomAD-4.0.0 6.85101E-07
31538 33 V/I 35 rs1389165052 0.2032 None gnomAD-3.1.2 6.57E-06
31538 33 V/I 35 rs1389165052 0.2032 None gnomAD-4.0.0 1.24083E-06
31539 34 V/A 36 rs1697378195 0.3154 None gnomAD-3.1.2 6.57E-06
31539 34 V/A 36 rs1697378195 0.3154 None gnomAD-4.0.0 6.5722E-06
31539 34 V/E 36 None 0.3154 None gnomAD-4.0.0 1.59407E-06
31539 34 V/M 36 rs1403013054 0.3154 None gnomAD-3.1.2 6.57E-06
31539 34 V/M 36 rs1403013054 0.3154 None gnomAD-4.0.0 3.84893E-06
31540 35 G/A 37 None 0.0911 None gnomAD-4.0.0 1.20032E-06
31540 35 G/D 37 None 0.0911 None gnomAD-4.0.0 4.80129E-06
31540 35 G/S 37 rs1167936410 0.0911 None gnomAD-2.1.1 4.04E-06
31540 35 G/S 37 rs1167936410 0.0911 None gnomAD-4.0.0 3.18786E-06
31541 36 Y/C 38 None 0.0961 None gnomAD-4.0.0 1.59235E-06
31543 38 I/M 40 rs397517759 0.0613 None gnomAD-2.1.1 7.67E-05
31543 38 I/M 40 rs397517759 0.0613 None gnomAD-3.1.2 6.57E-06
31543 38 I/M 40 rs397517759 0.0613 None gnomAD-4.0.0 5.32967E-05
31543 38 I/T 40 rs749659528 0.0613 None gnomAD-2.1.1 4.03E-06
31543 38 I/T 40 rs749659528 0.0613 None gnomAD-3.1.2 6.57E-06
31543 38 I/T 40 rs749659528 0.0613 None gnomAD-4.0.0 6.81771E-06
31543 38 I/V 40 rs771491701 0.0613 None gnomAD-2.1.1 4.03E-06
31543 38 I/V 40 rs771491701 0.0613 None gnomAD-3.1.2 1.31E-05
31543 38 I/V 40 rs771491701 0.0613 None gnomAD-4.0.0 1.30154E-05
31544 39 E/Q 41 rs1024530763 0.1292 None gnomAD-2.1.1 4.03E-06
31544 39 E/Q 41 rs1024530763 0.1292 None gnomAD-4.0.0 1.59165E-06
31545 40 R/C 42 rs202187398 0.2964 None gnomAD-2.1.1 2.04067E-04
31545 40 R/C 42 rs202187398 0.2964 None gnomAD-3.1.2 2.23543E-04
31545 40 R/C 42 rs202187398 0.2964 None gnomAD-4.0.0 1.3263E-04
31545 40 R/H 42 rs920039018 0.2964 None gnomAD-2.1.1 1.21E-05
31545 40 R/H 42 rs920039018 0.2964 None gnomAD-3.1.2 1.31E-05
31545 40 R/H 42 rs920039018 0.2964 None gnomAD-4.0.0 1.61134E-05
31545 40 R/S 42 rs202187398 0.2964 None 1000 genomes 1.99681E-04
31545 40 R/S 42 rs202187398 0.2964 None gnomAD-4.0.0 6.84269E-07
31546 41 K/Q 43 rs746533506 0.1822 None gnomAD-2.1.1 8.06E-06
31548 43 V/I 50 rs1697361370 0.4086 None gnomAD-3.1.2 6.57E-06
31548 43 V/I 50 rs1697361370 0.4086 None gnomAD-4.0.0 3.09865E-06
31549 44 S/G 51 rs1202729127 0.4354 None gnomAD-2.1.1 4.03E-06
31549 44 S/G 51 rs1202729127 0.4354 None gnomAD-4.0.0 1.5914E-06
31549 44 S/I 51 None 0.4354 None gnomAD-4.0.0 1.59138E-06
31549 44 S/N 51 rs1697358835 0.4354 None gnomAD-4.0.0 1.59138E-06
31550 45 E/A 52 None 1.0866 None gnomAD-4.0.0 1.20032E-06
31550 45 E/G 52 rs1263522750 1.0866 None gnomAD-3.1.2 6.57E-06
31550 45 E/G 52 rs1263522750 1.0866 None gnomAD-4.0.0 6.57488E-06
31551 46 V/A 53 rs369870689 0.9514 None gnomAD-2.1.1 1.61E-05
31551 46 V/A 53 rs369870689 0.9514 None gnomAD-3.1.2 1.32E-05
31551 46 V/A 53 rs369870689 0.9514 None gnomAD-4.0.0 1.17752E-05
31551 46 V/E 53 rs369870689 0.9514 None gnomAD-2.1.1 5.64E-05
31551 46 V/E 53 rs369870689 0.9514 None gnomAD-3.1.2 6.58E-06
31551 46 V/E 53 rs369870689 0.9514 None 1000 genomes 1.99681E-04
31551 46 V/E 53 rs369870689 0.9514 None gnomAD-4.0.0 1.30137E-05
31551 46 V/L 53 None 0.9514 None gnomAD-4.0.0 1.20032E-06
31552 47 G/A 54 None 0.5663 None gnomAD-4.0.0 1.5913E-06
31552 47 G/R 54 rs1219078324 0.5663 None gnomAD-2.1.1 8.06E-06
31552 47 G/R 54 rs1219078324 0.5663 None gnomAD-4.0.0 3.18267E-06
31554 49 G/S 63 None 0.3762 None gnomAD-4.0.0 4.78953E-06
31555 50 R/C 64 rs757099797 0.7228 None gnomAD-2.1.1 8.06E-06
31555 50 R/C 64 rs757099797 0.7228 None gnomAD-3.1.2 6.58E-06
31555 50 R/C 64 rs757099797 0.7228 None gnomAD-4.0.0 7.43707E-06
31555 50 R/G 64 rs757099797 0.7228 None gnomAD-2.1.1 1.21E-05
31555 50 R/G 64 rs757099797 0.7228 None gnomAD-4.0.0 4.78956E-06
31555 50 R/H 64 rs727503545 0.7228 None gnomAD-2.1.1 6.8E-05
31555 50 R/H 64 rs727503545 0.7228 None gnomAD-3.1.2 3.95E-05
31555 50 R/H 64 rs727503545 0.7228 None gnomAD-4.0.0 2.293E-05
31555 50 R/L 64 rs727503545 0.7228 None gnomAD-4.0.0 1.36844E-06
31555 50 R/S 64 None 0.7228 None gnomAD-4.0.0 6.84226E-07
31556 51 W/G 65 None 0.2504 None gnomAD-4.0.0 1.20032E-06
31558 53 K/N 67 None 0.5606 None gnomAD-4.0.0 6.84212E-07
31560 55 N/S 69 None 0.1445 None gnomAD-4.0.0 1.59128E-06
31562 57 T/A 72 None 0.8072 None gnomAD-4.0.0 2.40064E-06
31562 57 T/N 72 rs1697337398 0.8072 None gnomAD-3.1.2 6.58E-06
31562 57 T/N 72 rs1697337398 0.8072 None gnomAD-4.0.0 6.57592E-06
31563 58 I/T 75 None 0.4601 None gnomAD-4.0.0 1.59129E-06
31563 58 I/V 75 None 0.4601 None gnomAD-4.0.0 3.60097E-06
31565 60 S/P 83 None 0.5194 None gnomAD-4.0.0 1.20032E-06
31565 60 S/Y 83 rs1354829063 0.5194 None gnomAD-2.1.1 4.03E-06
31565 60 S/Y 83 rs1354829063 0.5194 None gnomAD-4.0.0 1.09474E-05
31566 61 D/E 88 rs72648253 0.6313 None gnomAD-2.1.1 3.62E-05
31566 61 D/E 88 rs72648253 0.6313 None gnomAD-4.0.0 1.27301E-05
31566 61 D/H 88 rs1697332587 0.6313 None gnomAD-4.0.0 2.73684E-06
31566 61 D/N 88 None 0.6313 None gnomAD-4.0.0 1.36842E-06
31567 62 N/S 89 rs886042885 0.1874 None gnomAD-2.1.1 4.29E-05
31567 62 N/S 89 rs886042885 0.1874 None gnomAD-3.1.2 4.6E-05
31567 62 N/S 89 rs886042885 0.1874 None gnomAD-4.0.0 5.51569E-05
31568 63 F/L 90 rs1431320981 0.3297 None gnomAD-2.1.1 7.15E-06
31568 63 F/L 90 rs1431320981 0.3297 None gnomAD-3.1.2 1.31E-05
31568 63 F/L 90 rs1431320981 0.3297 None gnomAD-4.0.0 3.84329E-06
31569 64 F/L 91 None 0.1644 None gnomAD-4.0.0 1.20032E-06
31570 65 T/A 92 rs1697325593 0.2575 None gnomAD-4.0.0 1.20032E-06
31571 66 V/M 93 rs140081451 0.1030 None gnomAD-2.1.1 4.03E-06
31571 66 V/M 93 rs140081451 0.1030 None gnomAD-3.1.2 2.63E-05
31571 66 V/M 93 rs140081451 0.1030 None gnomAD-4.0.0 2.04487E-05
31573 68 A/T 96 rs1175642523 0.6978 None gnomAD-2.1.1 7.15E-06
31573 68 A/T 96 rs1175642523 0.6978 None gnomAD-3.1.2 6.57E-06
31573 68 A/T 96 rs1175642523 0.6978 None gnomAD-4.0.0 3.09847E-06
31574 69 L/F 97 rs759654688 0.1339 None gnomAD-2.1.1 8.05E-06
31574 69 L/F 97 rs759654688 0.1339 None gnomAD-4.0.0 3.18255E-06
31574 69 L/V 97 rs759654688 0.1339 None gnomAD-2.1.1 1.21E-05
31574 69 L/V 97 rs759654688 0.1339 None gnomAD-4.0.0 4.77383E-06
31576 71 E/D 99 rs1363584144 0.5629 None gnomAD-2.1.1 3.18E-05
31576 71 E/D 99 rs1363584144 0.5629 None gnomAD-3.1.2 1.31E-05
31576 71 E/D 99 rs1363584144 0.5629 None gnomAD-4.0.0 1.31425E-05
31578 73 D/E 102 rs2154146101 0.3632 None gnomAD-3.1.2 6.57E-06
31579 74 T/A 103 rs1252165343 0.1887 None gnomAD-2.1.1 1.21E-05
31579 74 T/A 103 rs1252165343 0.1887 None gnomAD-4.0.0 2.73691E-06
31581 76 E/A 105 rs1321907057 0.1996 None gnomAD-2.1.1 4.03E-06
31581 76 E/A 105 rs1321907057 0.1996 None gnomAD-4.0.0 3.18272E-06
31581 76 E/K 105 rs1417917395 0.1996 None gnomAD-4.0.0 4.78956E-06
31581 76 E/Q 105 None 0.1996 None gnomAD-4.0.0 6.84223E-07
31582 77 F/L 106 None 0.0972 None gnomAD-4.0.0 6.84224E-07
31582 77 F/V 106 rs1559151131 0.0972 None gnomAD-2.1.1 4.03E-06
31582 77 F/V 106 rs1559151131 0.0972 None gnomAD-4.0.0 9.57913E-06
31583 78 R/C 107 rs994448356 0.1561 None gnomAD-3.1.2 6.57E-06
31583 78 R/C 107 rs994448356 0.1561 None gnomAD-4.0.0 3.04499E-06
31583 78 R/H 107 rs727503544 0.1561 None gnomAD-2.1.1 2.01E-05
31583 78 R/H 107 rs727503544 0.1561 None gnomAD-3.1.2 6.57E-06
31583 78 R/H 107 rs727503544 0.1561 None gnomAD-4.0.0 1.98308E-05
31583 78 R/L 107 rs727503544 0.1561 None gnomAD-4.0.0 6.84236E-06
31584 79 V/A 108 rs1224689157 0.0701 None gnomAD-2.1.1 4.03E-06
31584 79 V/A 108 rs1224689157 0.0701 None gnomAD-4.0.0 1.59139E-06
31584 79 V/M 108 None 0.0701 None gnomAD-4.0.0 1.59139E-06
31585 80 L/S 109 None 0.1422 None gnomAD-4.0.0 1.20032E-06
31586 81 A/G 110 None 0.0913 None gnomAD-4.0.0 1.20032E-06
31588 83 N/K 112 None 0.1049 None gnomAD-4.0.0 1.20032E-06
31591 86 G/A 115 None 0.2783 None gnomAD-4.0.0 6.84265E-06
31591 86 G/D 115 None 0.2783 None gnomAD-4.0.0 1.36853E-06
31591 86 G/R 115 rs1697305563 0.2783 None gnomAD-4.0.0 3.18312E-06
31592 87 V/I 116 rs370918800 0.3517 None gnomAD-2.1.1 3.58E-05
31592 87 V/I 116 rs370918800 0.3517 None gnomAD-3.1.2 5.91E-05
31592 87 V/I 116 rs370918800 0.3517 None gnomAD-4.0.0 5.20593E-05
31594 89 S/G 118 rs1697300791 0.1203 None gnomAD-4.0.0 3.18357E-06
31594 89 S/I 118 rs1392690569 0.1203 None gnomAD-2.1.1 4.03E-06
31594 89 S/I 118 rs1392690569 0.1203 None gnomAD-4.0.0 6.84333E-07
31594 89 S/R 118 rs763418453 0.1203 None gnomAD-2.1.1 1.21E-05
31594 89 S/R 118 rs763418453 0.1203 None gnomAD-4.0.0 1.36867E-06
31594 89 S/T 118 None 0.1203 None gnomAD-4.0.0 1.36867E-06
31596 91 G/A 120 None 0.2615 None gnomAD-4.0.0 6.84407E-07
31596 91 G/E 120 None 0.2615 None gnomAD-4.0.0 1.36881E-06
31599 94 S/C 123 rs1456653211 0.2161 None gnomAD-2.1.1 4.04E-06
31599 94 S/C 123 rs1456653211 0.2161 None gnomAD-4.0.0 1.59396E-06
31599 94 S/F 123 rs1456653211 0.2161 None gnomAD-4.0.0 1.59396E-06
31599 94 S/T 123 rs376588396 0.2161 None gnomAD-2.1.1 4.03E-06
31600 95 T/A 124 rs1363231803 0.2282 None gnomAD-2.1.1 4.04E-06
31600 95 T/A 124 rs1363231803 0.2282 None gnomAD-4.0.0 2.05454E-06
31601 96 G/D 125 rs1411032573 0.2660 None gnomAD-2.1.1 3.18E-05
31601 96 G/D 125 rs1411032573 0.2660 None gnomAD-4.0.0 1.59554E-06
31601 96 G/S 125 rs768216139 0.2660 None gnomAD-2.1.1 4.04E-06
31601 96 G/S 125 rs768216139 0.2660 None gnomAD-4.0.0 1.59523E-06
31602 97 P/S 126 rs1697282371 0.6281 None gnomAD-3.1.2 6.57E-06
31602 97 P/S 126 rs1697282371 0.6281 None gnomAD-4.0.0 2.56835E-06
31603 98 V/F 127 rs1060500567 0.1722 None gnomAD-3.1.2 6.57E-06
31603 98 V/F 127 rs1060500567 0.1722 None gnomAD-4.0.0 1.24184E-06
31603 98 V/I 127 None 0.1722 None gnomAD-4.0.0 6.85721E-07
31604 99 T/A 129 None 0.3357 None gnomAD-4.0.0 1.20032E-06
31604 99 T/P 129 None 0.3357 None gnomAD-4.0.0 1.20032E-06
31605 100 C/S 130 rs1308471692 0.0820 None gnomAD-4.0.0 1.60349E-06
31605 100 C/Y 130 rs991386516 0.0820 None gnomAD-4.0.0 2.40064E-06
31606 101 R/Q 131 rs371840978 0.6918 None gnomAD-2.1.1 1.22E-05
31606 101 R/Q 131 rs371840978 0.6918 None gnomAD-3.1.2 2.63E-05
31606 101 R/Q 131 rs371840978 0.6918 None gnomAD-4.0.0 1.42992E-05
31607 102 D/N 132 None 0.4025 None gnomAD-4.0.0 3.20977E-06