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

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25514 1 L/P 1 rs1553601755 1.0408 None gnomAD-3.1.2 6.58E-06
25514 1 L/P 1 rs1553601755 1.0408 None gnomAD-4.0.0 6.57687E-06
25514 1 L/V 1 None 1.0408 None gnomAD-4.0.0 1.59377E-06
25515 2 E/K 2 rs755797898 0.5616 None gnomAD-2.1.1 8.12E-06
25516 3 L/I 3 rs752300467 0.4406 None gnomAD-2.1.1 1.22E-05
25516 3 L/I 3 rs752300467 0.4406 None gnomAD-3.1.2 6.58E-06
25516 3 L/I 3 rs752300467 0.4406 None gnomAD-4.0.0 6.20099E-06
25517 4 R/G 8 rs780584058 0.7443 None gnomAD-4.0.0 2.05375E-06
25518 5 K/R 9 None 0.4524 None gnomAD-4.0.0 1.20033E-06
25519 6 I/T 11 rs376185524 0.5383 None 1000 genomes 1.99681E-04
25519 6 I/T 11 rs376185524 0.5383 None gnomAD-2.1.1 4.86E-05
25519 6 I/T 11 rs376185524 0.5383 None gnomAD-3.1.2 1.97E-05
25519 6 I/T 11 rs376185524 0.5383 None gnomAD-4.0.0 2.41808E-05
25519 6 I/N 11 rs376185524 0.5383 None gnomAD-4.0.0 2.05366E-06
25520 7 I/T 13 rs1553601714 0.2541 None gnomAD-4.0.0 1.36904E-06
25522 9 I/T 16 rs372963832 0.1844 None gnomAD-2.1.1 4.04E-06
25522 9 I/T 16 rs372963832 0.1844 None gnomAD-3.1.2 1.32E-05
25522 9 I/T 16 rs372963832 0.1844 None gnomAD-4.0.0 1.67399E-05
25522 9 I/V 16 rs1403999176 0.1844 None gnomAD-3.1.2 1.97E-05
25522 9 I/V 16 rs1403999176 0.1844 None gnomAD-4.0.0 5.12934E-06
25523 10 R/S 18 None 0.6649 None gnomAD-4.0.0 6.84503E-07
25524 11 A/T 23 rs766397845 0.3844 None gnomAD-2.1.1 4.04E-06
25525 12 G/V 24 rs1428374737 0.3773 None gnomAD-3.1.2 6.58E-06
25525 12 G/V 24 rs1428374737 0.3773 None gnomAD-4.0.0 6.57869E-06
25525 12 G/S 24 None 0.3773 None gnomAD-4.0.0 1.59282E-06
25525 12 G/D 24 rs1428374737 0.3773 None gnomAD-2.1.1 4.04E-06
25525 12 G/D 24 rs1428374737 0.3773 None gnomAD-4.0.0 1.5928E-06
25526 13 G/V 25 None 0.2257 None gnomAD-4.0.0 6.8455E-07
25526 13 G/S 25 rs1246585720 0.2257 None gnomAD-2.1.1 4.04E-06
25526 13 G/S 25 rs1246585720 0.2257 None gnomAD-4.0.0 1.59277E-06
25526 13 G/D 25 rs369344156 0.2257 None gnomAD-2.1.1 3.19E-05
25526 13 G/D 25 rs369344156 0.2257 None gnomAD-3.1.2 1.32E-05
25526 13 G/D 25 rs369344156 0.2257 None gnomAD-4.0.0 1.92212E-05
25526 13 G/A 25 None 0.2257 None gnomAD-4.0.0 6.8455E-07
25529 16 R/K 29 rs750282861 0.6950 None gnomAD-2.1.1 2.42E-05
25529 16 R/K 29 rs750282861 0.6950 None gnomAD-4.0.0 4.10715E-06
25530 17 L/S 30 rs1465564864 0.1636 None gnomAD-2.1.1 4.04E-06
25530 17 L/S 30 rs1465564864 0.1636 None gnomAD-3.1.2 6.58E-06
25530 17 L/S 30 rs1465564864 0.1636 None gnomAD-4.0.0 1.86024E-06
25530 17 L/F 30 rs184034300 0.1636 None 1000 genomes 1.99681E-04
25530 17 L/F 30 rs184034300 0.1636 None gnomAD-2.1.1 1.79143E-04
25530 17 L/F 30 rs184034300 0.1636 None gnomAD-3.1.2 1.38167E-04
25530 17 L/F 30 rs184034300 0.1636 None gnomAD-4.0.0 6.84613E-07
25531 18 F/I 31 rs878933531 0.4086 None gnomAD-4.0.0 3.60097E-06
25531 18 F/S 31 rs976954474 0.4086 None gnomAD-2.1.1 7.16E-06
25531 18 F/S 31 rs976954474 0.4086 None gnomAD-3.1.2 1.32E-05
25531 18 F/S 31 rs976954474 0.4086 None gnomAD-4.0.0 3.10039E-06
25532 19 V/A 33 rs55984930 0.2500 None gnomAD-2.1.1 2.83E-05
25532 19 V/A 33 rs55984930 0.2500 None gnomAD-4.0.0 7.5315E-06
25532 19 V/F 33 rs1358589426 0.2500 None gnomAD-2.1.1 4.04E-06
25532 19 V/F 33 rs1358589426 0.2500 None gnomAD-4.0.0 2.73847E-06
25532 19 V/L 33 None 0.2500 None gnomAD-4.0.0 6.84618E-07
25533 20 P/S 34 rs1707347772 0.4830 None gnomAD-4.0.0 3.60097E-06
25534 21 I/V 35 rs1245433477 0.1459 None gnomAD-2.1.1 4.04E-06
25534 21 I/V 35 rs1245433477 0.1459 None gnomAD-4.0.0 6.84689E-07
25534 21 I/L 35 rs1245433477 0.1459 None gnomAD-2.1.1 4.04E-06
25534 21 I/L 35 rs1245433477 0.1459 None gnomAD-4.0.0 6.84689E-07
25536 23 G/V 40 rs1021201663 0.3423 None gnomAD-4.0.0 1.59386E-06
25536 23 G/D 40 rs1021201663 0.3423 None gnomAD-3.1.2 6.58E-06
25536 23 G/D 40 rs1021201663 0.3423 None gnomAD-4.0.0 6.57895E-06
25536 23 G/C 40 rs764082866 0.3423 None gnomAD-2.1.1 4.04E-06
25536 23 G/C 40 rs764082866 0.3423 None gnomAD-4.0.0 1.59382E-06
25537 24 R/C 41 rs527631472 0.8030 None 1000 genomes 1.99681E-04
25537 24 R/C 41 rs527631472 0.8030 None gnomAD-2.1.1 8.07E-06
25537 24 R/C 41 rs527631472 0.8030 None gnomAD-3.1.2 1.32E-05
25537 24 R/C 41 rs527631472 0.8030 None gnomAD-4.0.0 3.10092E-06
25537 24 R/G 41 rs527631472 0.8030 None gnomAD-2.1.1 4.04E-06
25537 24 R/G 41 rs527631472 0.8030 None gnomAD-4.0.0 2.05425E-06
25537 24 R/H 41 rs561977468 0.8030 None 1000 genomes 1.99681E-04
25537 24 R/H 41 rs561977468 0.8030 None gnomAD-2.1.1 1.397E-04
25537 24 R/H 41 rs561977468 0.8030 None gnomAD-3.1.2 8.55E-05
25537 24 R/H 41 rs561977468 0.8030 None gnomAD-4.0.0 4.65074E-05
25539 26 T/I 43 rs746337217 0.5186 None gnomAD-2.1.1 8.07E-06
25539 26 T/I 43 rs746337217 0.5186 None gnomAD-4.0.0 2.73857E-06
25540 27 P/L 44 rs541464855 0.1915 None gnomAD-2.1.1 4.03E-06
25540 27 P/L 44 rs541464855 0.1915 None gnomAD-4.0.0 6.84695E-07
25540 27 P/Q 44 rs541464855 0.1915 None 1000 genomes 1.99681E-04
25540 27 P/Q 44 rs541464855 0.1915 None gnomAD-2.1.1 3.19E-05
25540 27 P/Q 44 rs541464855 0.1915 None gnomAD-3.1.2 1.97E-05
25540 27 P/Q 44 rs541464855 0.1915 None gnomAD-4.0.0 4.96085E-06
25541 28 E/G 45 None 0.6992 None gnomAD-4.0.0 1.59406E-06
25542 29 V/I 46 None 0.2651 None gnomAD-2.1.1 8.07E-06
25542 29 V/I 46 None 0.2651 None gnomAD-4.0.0 4.10833E-06
25542 29 V/F 46 rs771230325 0.2651 None gnomAD-3.1.2 6.58E-06
25542 29 V/F 46 rs771230325 0.2651 None gnomAD-4.0.0 1.2403E-06
25543 30 K/R 47 None 0.5353 None gnomAD-4.0.0 1.20033E-06
25543 30 K/E 47 rs372016541 0.5353 None gnomAD-2.1.1 1.43E-05
25543 30 K/E 47 rs372016541 0.5353 None gnomAD-3.1.2 1.97E-05
25543 30 K/E 47 rs372016541 0.5353 None gnomAD-4.0.0 4.34098E-06
25545 32 G/R 49 rs575965326 0.2341 None 1000 genomes 1.99681E-04
25545 32 G/R 49 rs575965326 0.2341 None gnomAD-2.1.1 4.03E-06
25545 32 G/R 49 rs575965326 0.2341 None gnomAD-3.1.2 6.58E-06
25545 32 G/R 49 rs575965326 0.2341 None gnomAD-4.0.0 2.48044E-06
25546 33 K/N 50 None 0.1490 None gnomAD-4.0.0 6.84682E-07
25546 33 K/R 50 None 0.1490 None gnomAD-4.0.0 1.20032E-06
25547 34 V/M 51 rs1429730962 0.4277 None gnomAD-2.1.1 8.06E-06
25547 34 V/M 51 rs1429730962 0.4277 None gnomAD-4.0.0 6.84674E-06
25548 35 D/V 52 None 1.0892 None gnomAD-4.0.0 1.59375E-06
25549 36 G/S 55 rs181166140 0.4018 None 1000 genomes 7.98722E-04
25549 36 G/S 55 rs181166140 0.4018 None gnomAD-2.1.1 3.29308E-04
25549 36 G/S 55 rs181166140 0.4018 None gnomAD-3.1.2 1.13751E-03
25549 36 G/S 55 rs181166140 0.4018 None gnomAD-4.0.0 1.79821E-04
25551 38 I/M 58 None 0.2670 None gnomAD-4.0.0 1.59383E-06
25552 39 R/Q 69 rs779399871 0.3655 None gnomAD-2.1.1 1.21E-05
25552 39 R/Q 69 rs779399871 0.3655 None gnomAD-4.0.0 1.23246E-05
25552 39 R/G 69 rs545954490 0.3655 None gnomAD-2.1.1 3.19E-05
25553 40 D/N 70 rs1246439715 1.1352 None gnomAD-2.1.1 4.03E-06
25553 40 D/N 70 rs1246439715 1.1352 None gnomAD-4.0.0 1.59378E-06
25553 40 D/G 70 rs1197063716 1.1352 None gnomAD-2.1.1 4.03E-06
25553 40 D/G 70 rs1197063716 1.1352 None gnomAD-4.0.0 3.18749E-06
25553 40 D/E 70 rs1453473992 1.1352 None gnomAD-2.1.1 4.03E-06
25554 41 A/G 73 rs879087699 0.4407 None gnomAD-2.1.1 7.16E-06
25554 41 A/G 73 rs879087699 0.4407 None gnomAD-3.1.2 3.29E-05
25554 41 A/G 73 rs879087699 0.4407 None gnomAD-4.0.0 4.34072E-06
25555 42 A/V 102 rs1035031578 0.1874 None gnomAD-2.1.1 3.19E-05
25555 42 A/V 102 rs1035031578 0.1874 None gnomAD-3.1.2 1.32E-05
25555 42 A/V 102 rs1035031578 0.1874 None gnomAD-4.0.0 6.2008E-06
25556 43 I/V 122 rs1707317089 0.6815 None gnomAD-4.0.0 6.846E-06
25557 44 I/T 123 rs758441370 0.3150 None gnomAD-2.1.1 8.07E-06
25557 44 I/T 123 rs758441370 0.3150 None gnomAD-4.0.0 3.42287E-06
25558 45 D/Y 125 rs750336110 0.6468 None gnomAD-2.1.1 1.21E-05
25558 45 D/Y 125 rs750336110 0.6468 None gnomAD-4.0.0 5.47669E-06
25558 45 D/V 125 rs201095164 0.6468 None gnomAD-2.1.1 1.93332E-04
25558 45 D/V 125 rs201095164 0.6468 None gnomAD-3.1.2 1.05201E-04
25558 45 D/V 125 rs201095164 0.6468 None gnomAD-4.0.0 9.11376E-05
25562 49 S/G 134 rs1400963847 0.3687 None gnomAD-2.1.1 3.19E-05
25562 49 S/G 134 rs1400963847 0.3687 None gnomAD-3.1.2 6.57E-06
25562 49 S/G 134 rs1400963847 0.3687 None gnomAD-4.0.0 6.57454E-06
25563 50 F/Y 135 rs1273963065 0.2318 None gnomAD-2.1.1 4.03E-06
25563 50 F/Y 135 rs1273963065 0.2318 None gnomAD-4.0.0 4.77775E-06
25565 52 S/P 137 rs753679035 0.1735 None gnomAD-2.1.1 8.07E-06
25565 52 S/P 137 rs753679035 0.1735 None gnomAD-4.0.0 8.21342E-06
25566 53 L/V 138 rs1332447067 0.1055 None gnomAD-2.1.1 4.03E-06
25566 53 L/V 138 rs1332447067 0.1055 None gnomAD-4.0.0 1.36889E-06
25566 53 L/P 138 rs1323717498 0.1055 None gnomAD-2.1.1 4.03E-06
25566 53 L/P 138 rs1323717498 0.1055 None gnomAD-4.0.0 1.36888E-06
25567 54 V/F 139 rs3813244 0.2662 None 1000 genomes 5.99042E-04
25567 54 V/F 139 rs3813244 0.2662 None gnomAD-2.1.1 2.07653E-04
25567 54 V/F 139 rs3813244 0.2662 None gnomAD-3.1.2 1.18356E-04
25567 54 V/F 139 rs3813244 0.2662 None gnomAD-4.0.0 1.45048E-04
25567 54 V/I 139 None 0.2662 None gnomAD-4.0.0 6.84436E-07
25568 55 L/P 140 None 0.1458 None gnomAD-4.0.0 1.36885E-06
25569 56 D/H 141 None 0.6273 None gnomAD-4.0.0 1.5924E-06
25569 56 D/E 141 rs1002726225 0.6273 None gnomAD-4.0.0 2.73767E-06
25570 57 N/K 143 None 0.7344 None gnomAD-4.0.0 1.59235E-06
25570 57 N/S 143 None 0.7344 None gnomAD-4.0.0 1.59235E-06
25571 58 V/I 144 rs760782774 0.0997 None gnomAD-2.1.1 4.03E-06
25573 60 R/Q 146 rs760052770 0.6246 None gnomAD-2.1.1 1.21E-05
25573 60 R/Q 146 rs760052770 0.6246 None gnomAD-3.1.2 3.29E-05
25573 60 R/Q 146 rs760052770 0.6246 None gnomAD-4.0.0 1.85967E-05
25573 60 R/L 146 rs760052770 0.6246 None gnomAD-3.1.2 6.58E-06
25573 60 R/L 146 rs760052770 0.6246 None gnomAD-4.0.0 6.57609E-06
25574 61 Y/F 148 rs1199417769 0.7429 None gnomAD-3.1.2 6.58E-06
25574 61 Y/F 148 rs1199417769 0.7429 None gnomAD-4.0.0 6.57549E-06
25574 61 Y/H 148 rs3813245 0.7429 None 1000 genomes 2.23642E-02
25574 61 Y/H 148 rs3813245 0.7429 None gnomAD-2.1.1 2.57529E-02
25574 61 Y/H 148 rs3813245 0.7429 None gnomAD-3.1.2 2.02286E-02
25574 61 Y/H 148 rs3813245 0.7429 None gnomAD-4.0.0 2.29074E-02
25575 62 D/N 149 rs749711979 0.1484 None gnomAD-2.1.1 1.07E-05
25575 62 D/N 149 rs749711979 0.1484 None gnomAD-3.1.2 1.97E-05
25575 62 D/N 149 rs749711979 0.1484 None gnomAD-4.0.0 4.33919E-06
25576 63 S/N 151 rs1184700085 0.2330 None gnomAD-3.1.2 6.58E-06
25576 63 S/N 151 rs1184700085 0.2330 None gnomAD-4.0.0 6.57678E-06
25576 63 S/R 151 None 0.2330 None gnomAD-4.0.0 1.59225E-06
25576 63 S/T 151 None 0.2330 None gnomAD-4.0.0 1.32035E-05
25577 64 G/R 152 rs1482128356 0.2334 None gnomAD-2.1.1 4.03E-06
25579 66 Y/C 154 rs1707280961 0.1490 None gnomAD-3.1.2 6.58E-06
25579 66 Y/C 154 rs1707280961 0.1490 None gnomAD-4.0.0 5.07512E-06
25579 66 Y/H 154 rs1254023475 0.1490 None gnomAD-2.1.1 4.03E-06
25579 66 Y/H 154 rs1254023475 0.1490 None gnomAD-4.0.0 1.36877E-06
25580 67 T/R 155 None 0.2720 None gnomAD-4.0.0 6.84389E-07
25580 67 T/M 155 rs56372592 0.2720 None 1000 genomes 4.59265E-03
25580 67 T/M 155 rs56372592 0.2720 None gnomAD-2.1.1 1.61769E-03
25580 67 T/M 155 rs56372592 0.2720 None gnomAD-3.1.2 9.3394E-04
25580 67 T/M 155 rs56372592 0.2720 None gnomAD-4.0.0 5.79551E-04
25580 67 T/K 155 rs56372592 0.2720 None gnomAD-2.1.1 2.11159E-04
25580 67 T/K 155 rs56372592 0.2720 None gnomAD-3.1.2 2.36774E-04
25580 67 T/K 155 rs56372592 0.2720 None gnomAD-4.0.0 6.51499E-04
25580 67 T/A 155 rs371711135 0.2720 None gnomAD-2.1.1 2.15E-05
25580 67 T/A 155 rs371711135 0.2720 None gnomAD-3.1.2 9.86E-05
25580 67 T/A 155 rs371711135 0.2720 None gnomAD-4.0.0 1.6736E-05
25584 71 E/K 159 rs1217257725 0.4880 None gnomAD-2.1.1 4.03E-06
25584 71 E/K 159 rs1217257725 0.4880 None gnomAD-4.0.0 2.73746E-06
25585 72 N/K 161 rs1171173179 0.1912 None gnomAD-2.1.1 3.19E-05
25585 72 N/K 161 rs1171173179 0.1912 None gnomAD-3.1.2 1.97E-05
25585 72 N/K 161 rs1171173179 0.1912 None gnomAD-4.0.0 1.20032E-06
25586 73 S/R 162 rs757243379 0.6695 None gnomAD-2.1.1 2.86E-05
25586 73 S/R 162 rs757243379 0.6695 None gnomAD-3.1.2 6.58E-06
25586 73 S/R 162 rs757243379 0.6695 None gnomAD-4.0.0 2.47934E-06
25586 73 S/I 162 None 0.6695 None gnomAD-4.0.0 1.20032E-06
25586 73 S/G 162 rs757243379 0.6695 None gnomAD-2.1.1 8.06E-06
25586 73 S/G 162 rs757243379 0.6695 None gnomAD-4.0.0 5.47488E-06
25587 74 S/N 163 None 0.6715 None gnomAD-4.0.0 1.20033E-06
25588 75 G/R 164 rs1275050402 0.3540 None gnomAD-2.1.1 4.03E-06
25588 75 G/R 164 rs1275050402 0.3540 None gnomAD-3.1.2 6.58E-06
25588 75 G/R 164 rs1275050402 0.3540 None gnomAD-4.0.0 2.5636E-06
25589 76 T/A 165 rs794729499 0.5410 None gnomAD-2.1.1 4.03E-06
25589 76 T/A 165 rs794729499 0.5410 None gnomAD-3.1.2 6.57E-06
25589 76 T/A 165 rs794729499 0.5410 None gnomAD-4.0.0 3.71902E-06
25590 77 K/N 166 rs1707266415 0.8254 None gnomAD-3.1.2 6.57E-06
25590 77 K/N 166 rs1707266415 0.8254 None gnomAD-4.0.0 6.57497E-06
25590 77 K/R 166 rs1348119178 0.8254 None gnomAD-2.1.1 4.03E-06
25590 77 K/R 166 rs1348119178 0.8254 None gnomAD-4.0.0 1.59207E-06
25592 79 A/V 169 rs1707265300 0.4752 None gnomAD-4.0.0 1.59217E-06
25592 79 A/T 169 None 0.4752 None gnomAD-4.0.0 3.18432E-06
25593 80 F/Y 171 rs547186080 0.6050 None gnomAD-2.1.1 7.15E-06
25593 80 F/Y 171 rs547186080 0.6050 None gnomAD-3.1.2 1.31E-05
25593 80 F/Y 171 rs547186080 0.6050 None gnomAD-4.0.0 8.0579E-06
25598 85 V/I 177 rs763761448 0.1624 None gnomAD-2.1.1 8.06E-06
25598 85 V/I 177 rs763761448 0.1624 None gnomAD-4.0.0 1.59212E-06