Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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 D T P S P P V N L K V T E I T K D S V S I T W E P P L L D G G S K I K N Y I V E K R E A T R K S Y A A V V T N C H K N S W K I D Q L Q E G C S Y Y F R V T A E N E Y G I G L P A Q T A D P I K V A E V
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 1.0538 None gnomAD-3.1.2 6.58E-06
25514 1 L/P 1 rs1553601755 1.0538 None gnomAD-4.0.0 6.57687E-06
25514 1 L/V 1 None 1.0538 None gnomAD-4.0.0 1.59377E-06
25515 2 E/K 2 rs755797898 0.5036 None gnomAD-2.1.1 8.12E-06
25516 3 L/I 3 rs752300467 0.4279 None gnomAD-2.1.1 1.22E-05
25516 3 L/I 3 rs752300467 0.4279 None gnomAD-3.1.2 6.58E-06
25516 3 L/I 3 rs752300467 0.4279 None gnomAD-4.0.0 6.20099E-06
25517 4 R/G 8 rs780584058 0.7634 None gnomAD-4.0.0 2.05375E-06
25518 5 K/R 9 None 0.3807 None gnomAD-4.0.0 1.20033E-06
25519 6 I/T 11 rs376185524 0.5434 None 1000 genomes 1.99681E-04
25519 6 I/T 11 rs376185524 0.5434 None gnomAD-2.1.1 4.86E-05
25519 6 I/T 11 rs376185524 0.5434 None gnomAD-3.1.2 1.97E-05
25519 6 I/T 11 rs376185524 0.5434 None gnomAD-4.0.0 2.41808E-05
25519 6 I/N 11 rs376185524 0.5434 None gnomAD-4.0.0 2.05366E-06
25520 7 I/T 13 rs1553601714 0.2351 None gnomAD-4.0.0 1.36904E-06
25522 9 I/T 16 rs372963832 0.1586 None gnomAD-2.1.1 4.04E-06
25522 9 I/T 16 rs372963832 0.1586 None gnomAD-3.1.2 1.32E-05
25522 9 I/T 16 rs372963832 0.1586 None gnomAD-4.0.0 1.67399E-05
25522 9 I/V 16 rs1403999176 0.1586 None gnomAD-3.1.2 1.97E-05
25522 9 I/V 16 rs1403999176 0.1586 None gnomAD-4.0.0 5.12934E-06
25523 10 R/S 18 None 0.4731 None gnomAD-4.0.0 6.84503E-07
25524 11 A/T 23 rs766397845 0.2250 None gnomAD-2.1.1 4.04E-06
25525 12 G/V 24 rs1428374737 0.3705 None gnomAD-3.1.2 6.58E-06
25525 12 G/V 24 rs1428374737 0.3705 None gnomAD-4.0.0 6.57869E-06
25525 12 G/S 24 None 0.3705 None gnomAD-4.0.0 1.59282E-06
25525 12 G/D 24 rs1428374737 0.3705 None gnomAD-2.1.1 4.04E-06
25525 12 G/D 24 rs1428374737 0.3705 None gnomAD-4.0.0 1.5928E-06
25526 13 G/V 25 None 0.2112 None gnomAD-4.0.0 6.8455E-07
25526 13 G/S 25 rs1246585720 0.2112 None gnomAD-2.1.1 4.04E-06
25526 13 G/S 25 rs1246585720 0.2112 None gnomAD-4.0.0 1.59277E-06
25526 13 G/D 25 rs369344156 0.2112 None gnomAD-2.1.1 3.19E-05
25526 13 G/D 25 rs369344156 0.2112 None gnomAD-3.1.2 1.32E-05
25526 13 G/D 25 rs369344156 0.2112 None gnomAD-4.0.0 1.92212E-05
25526 13 G/A 25 None 0.2112 None gnomAD-4.0.0 6.8455E-07
25529 16 R/K 29 rs750282861 0.4953 None gnomAD-2.1.1 2.42E-05
25529 16 R/K 29 rs750282861 0.4953 None gnomAD-4.0.0 4.10715E-06
25530 17 L/S 30 rs1465564864 0.1339 None gnomAD-2.1.1 4.04E-06
25530 17 L/S 30 rs1465564864 0.1339 None gnomAD-3.1.2 6.58E-06
25530 17 L/S 30 rs1465564864 0.1339 None gnomAD-4.0.0 1.86024E-06
25530 17 L/F 30 rs184034300 0.1339 None 1000 genomes 1.99681E-04
25530 17 L/F 30 rs184034300 0.1339 None gnomAD-2.1.1 1.79143E-04
25530 17 L/F 30 rs184034300 0.1339 None gnomAD-3.1.2 1.38167E-04
25530 17 L/F 30 rs184034300 0.1339 None gnomAD-4.0.0 6.84613E-07
25531 18 F/I 31 rs878933531 0.3447 None gnomAD-4.0.0 3.60097E-06
25531 18 F/S 31 rs976954474 0.3447 None gnomAD-2.1.1 7.16E-06
25531 18 F/S 31 rs976954474 0.3447 None gnomAD-3.1.2 1.32E-05
25531 18 F/S 31 rs976954474 0.3447 None gnomAD-4.0.0 3.10039E-06
25532 19 V/A 33 rs55984930 0.2592 None gnomAD-2.1.1 2.83E-05
25532 19 V/A 33 rs55984930 0.2592 None gnomAD-4.0.0 7.5315E-06
25532 19 V/F 33 rs1358589426 0.2592 None gnomAD-2.1.1 4.04E-06
25532 19 V/F 33 rs1358589426 0.2592 None gnomAD-4.0.0 2.73847E-06
25532 19 V/L 33 None 0.2592 None gnomAD-4.0.0 6.84618E-07
25533 20 P/S 34 rs1707347772 0.4787 None gnomAD-4.0.0 3.60097E-06
25534 21 I/V 35 rs1245433477 0.1226 None gnomAD-2.1.1 4.04E-06
25534 21 I/V 35 rs1245433477 0.1226 None gnomAD-4.0.0 6.84689E-07
25534 21 I/L 35 rs1245433477 0.1226 None gnomAD-2.1.1 4.04E-06
25534 21 I/L 35 rs1245433477 0.1226 None gnomAD-4.0.0 6.84689E-07
25536 23 G/V 40 rs1021201663 0.3575 None gnomAD-4.0.0 1.59386E-06
25536 23 G/D 40 rs1021201663 0.3575 None gnomAD-3.1.2 6.58E-06
25536 23 G/D 40 rs1021201663 0.3575 None gnomAD-4.0.0 6.57895E-06
25536 23 G/C 40 rs764082866 0.3575 None gnomAD-2.1.1 4.04E-06
25536 23 G/C 40 rs764082866 0.3575 None gnomAD-4.0.0 1.59382E-06
25537 24 R/C 41 rs527631472 0.9505 None 1000 genomes 1.99681E-04
25537 24 R/C 41 rs527631472 0.9505 None gnomAD-2.1.1 8.07E-06
25537 24 R/C 41 rs527631472 0.9505 None gnomAD-3.1.2 1.32E-05
25537 24 R/C 41 rs527631472 0.9505 None gnomAD-4.0.0 3.10092E-06
25537 24 R/G 41 rs527631472 0.9505 None gnomAD-2.1.1 4.04E-06
25537 24 R/G 41 rs527631472 0.9505 None gnomAD-4.0.0 2.05425E-06
25537 24 R/H 41 rs561977468 0.9505 None 1000 genomes 1.99681E-04
25537 24 R/H 41 rs561977468 0.9505 None gnomAD-2.1.1 1.397E-04
25537 24 R/H 41 rs561977468 0.9505 None gnomAD-3.1.2 8.55E-05
25537 24 R/H 41 rs561977468 0.9505 None gnomAD-4.0.0 4.65074E-05
25539 26 T/I 43 rs746337217 0.4117 None gnomAD-2.1.1 8.07E-06
25539 26 T/I 43 rs746337217 0.4117 None gnomAD-4.0.0 2.73857E-06
25540 27 P/L 44 rs541464855 0.1774 None gnomAD-2.1.1 4.03E-06
25540 27 P/L 44 rs541464855 0.1774 None gnomAD-4.0.0 6.84695E-07
25540 27 P/Q 44 rs541464855 0.1774 None 1000 genomes 1.99681E-04
25540 27 P/Q 44 rs541464855 0.1774 None gnomAD-2.1.1 3.19E-05
25540 27 P/Q 44 rs541464855 0.1774 None gnomAD-3.1.2 1.97E-05
25540 27 P/Q 44 rs541464855 0.1774 None gnomAD-4.0.0 4.96085E-06
25541 28 E/G 45 None 0.5944 None gnomAD-4.0.0 1.59406E-06
25542 29 V/I 46 None 0.2231 None gnomAD-2.1.1 8.07E-06
25542 29 V/I 46 None 0.2231 None gnomAD-4.0.0 4.10833E-06
25542 29 V/F 46 rs771230325 0.2231 None gnomAD-3.1.2 6.58E-06
25542 29 V/F 46 rs771230325 0.2231 None gnomAD-4.0.0 1.2403E-06
25543 30 K/R 47 None 0.4192 None gnomAD-4.0.0 1.20033E-06
25543 30 K/E 47 rs372016541 0.4192 None gnomAD-2.1.1 1.43E-05
25543 30 K/E 47 rs372016541 0.4192 None gnomAD-3.1.2 1.97E-05
25543 30 K/E 47 rs372016541 0.4192 None gnomAD-4.0.0 4.34098E-06
25545 32 G/R 49 rs575965326 0.2351 None 1000 genomes 1.99681E-04
25545 32 G/R 49 rs575965326 0.2351 None gnomAD-2.1.1 4.03E-06
25545 32 G/R 49 rs575965326 0.2351 None gnomAD-3.1.2 6.58E-06
25545 32 G/R 49 rs575965326 0.2351 None gnomAD-4.0.0 2.48044E-06
25546 33 K/N 50 None 0.1519 None gnomAD-4.0.0 6.84682E-07
25546 33 K/R 50 None 0.1519 None gnomAD-4.0.0 1.20032E-06
25547 34 V/M 51 rs1429730962 0.5283 None gnomAD-2.1.1 8.06E-06
25547 34 V/M 51 rs1429730962 0.5283 None gnomAD-4.0.0 6.84674E-06
25548 35 D/V 52 None 0.8750 None gnomAD-4.0.0 1.59375E-06
25549 36 G/S 55 rs181166140 0.3965 None 1000 genomes 7.98722E-04
25549 36 G/S 55 rs181166140 0.3965 None gnomAD-2.1.1 3.29308E-04
25549 36 G/S 55 rs181166140 0.3965 None gnomAD-3.1.2 1.13751E-03
25549 36 G/S 55 rs181166140 0.3965 None gnomAD-4.0.0 1.79821E-04
25551 38 I/M 58 None 0.2654 None gnomAD-4.0.0 1.59383E-06
25552 39 R/Q 69 rs779399871 0.2646 None gnomAD-2.1.1 1.21E-05
25552 39 R/Q 69 rs779399871 0.2646 None gnomAD-4.0.0 1.23246E-05
25552 39 R/G 69 rs545954490 0.2646 None gnomAD-2.1.1 3.19E-05
25553 40 D/N 70 rs1246439715 1.1181 None gnomAD-2.1.1 4.03E-06
25553 40 D/N 70 rs1246439715 1.1181 None gnomAD-4.0.0 1.59378E-06
25553 40 D/G 70 rs1197063716 1.1181 None gnomAD-2.1.1 4.03E-06
25553 40 D/G 70 rs1197063716 1.1181 None gnomAD-4.0.0 3.18749E-06
25553 40 D/E 70 rs1453473992 1.1181 None gnomAD-2.1.1 4.03E-06
25554 41 A/G 73 rs879087699 0.3968 None gnomAD-2.1.1 7.16E-06
25554 41 A/G 73 rs879087699 0.3968 None gnomAD-3.1.2 3.29E-05
25554 41 A/G 73 rs879087699 0.3968 None gnomAD-4.0.0 4.34072E-06
25555 42 A/V 102 rs1035031578 0.1792 None gnomAD-2.1.1 3.19E-05
25555 42 A/V 102 rs1035031578 0.1792 None gnomAD-3.1.2 1.32E-05
25555 42 A/V 102 rs1035031578 0.1792 None gnomAD-4.0.0 6.2008E-06
25556 43 I/V 122 rs1707317089 0.6177 None gnomAD-4.0.0 6.846E-06
25557 44 I/T 123 rs758441370 0.3126 None gnomAD-2.1.1 8.07E-06
25557 44 I/T 123 rs758441370 0.3126 None gnomAD-4.0.0 3.42287E-06
25558 45 D/Y 125 rs750336110 0.5500 None gnomAD-2.1.1 1.21E-05
25558 45 D/Y 125 rs750336110 0.5500 None gnomAD-4.0.0 5.47669E-06
25558 45 D/V 125 rs201095164 0.5500 None gnomAD-2.1.1 1.93332E-04
25558 45 D/V 125 rs201095164 0.5500 None gnomAD-3.1.2 1.05201E-04
25558 45 D/V 125 rs201095164 0.5500 None gnomAD-4.0.0 9.11376E-05
25562 49 S/G 134 rs1400963847 0.3558 None gnomAD-2.1.1 3.19E-05
25562 49 S/G 134 rs1400963847 0.3558 None gnomAD-3.1.2 6.57E-06
25562 49 S/G 134 rs1400963847 0.3558 None gnomAD-4.0.0 6.57454E-06
25563 50 F/Y 135 rs1273963065 0.1952 None gnomAD-2.1.1 4.03E-06
25563 50 F/Y 135 rs1273963065 0.1952 None gnomAD-4.0.0 4.77775E-06
25565 52 S/P 137 rs753679035 0.1342 None gnomAD-2.1.1 8.07E-06
25565 52 S/P 137 rs753679035 0.1342 None gnomAD-4.0.0 8.21342E-06
25566 53 L/V 138 rs1332447067 0.0872 None gnomAD-2.1.1 4.03E-06
25566 53 L/V 138 rs1332447067 0.0872 None gnomAD-4.0.0 1.36889E-06
25566 53 L/P 138 rs1323717498 0.0872 None gnomAD-2.1.1 4.03E-06
25566 53 L/P 138 rs1323717498 0.0872 None gnomAD-4.0.0 1.36888E-06
25567 54 V/F 139 rs3813244 0.1932 None 1000 genomes 5.99042E-04
25567 54 V/F 139 rs3813244 0.1932 None gnomAD-2.1.1 2.07653E-04
25567 54 V/F 139 rs3813244 0.1932 None gnomAD-3.1.2 1.18356E-04
25567 54 V/F 139 rs3813244 0.1932 None gnomAD-4.0.0 1.45048E-04
25567 54 V/I 139 None 0.1932 None gnomAD-4.0.0 6.84436E-07
25568 55 L/P 140 None 0.1138 None gnomAD-4.0.0 1.36885E-06
25569 56 D/H 141 None 0.4888 None gnomAD-4.0.0 1.5924E-06
25569 56 D/E 141 rs1002726225 0.4888 None gnomAD-4.0.0 2.73767E-06
25570 57 N/K 143 None 0.7111 None gnomAD-4.0.0 1.59235E-06
25570 57 N/S 143 None 0.7111 None gnomAD-4.0.0 1.59235E-06
25571 58 V/I 144 rs760782774 0.0843 None gnomAD-2.1.1 4.03E-06
25573 60 R/Q 146 rs760052770 0.0996 None gnomAD-2.1.1 1.21E-05
25573 60 R/Q 146 rs760052770 0.0996 None gnomAD-3.1.2 3.29E-05
25573 60 R/Q 146 rs760052770 0.0996 None gnomAD-4.0.0 1.85967E-05
25573 60 R/L 146 rs760052770 0.0996 None gnomAD-3.1.2 6.58E-06
25573 60 R/L 146 rs760052770 0.0996 None gnomAD-4.0.0 6.57609E-06
25574 61 Y/F 148 rs1199417769 0.5114 None gnomAD-3.1.2 6.58E-06
25574 61 Y/F 148 rs1199417769 0.5114 None gnomAD-4.0.0 6.57549E-06
25574 61 Y/H 148 rs3813245 0.5114 None 1000 genomes 2.23642E-02
25574 61 Y/H 148 rs3813245 0.5114 None gnomAD-2.1.1 2.57529E-02
25574 61 Y/H 148 rs3813245 0.5114 None gnomAD-3.1.2 2.02286E-02
25574 61 Y/H 148 rs3813245 0.5114 None gnomAD-4.0.0 2.29074E-02
25575 62 D/N 149 rs749711979 0.1510 None gnomAD-2.1.1 1.07E-05
25575 62 D/N 149 rs749711979 0.1510 None gnomAD-3.1.2 1.97E-05
25575 62 D/N 149 rs749711979 0.1510 None gnomAD-4.0.0 4.33919E-06
25576 63 S/N 151 rs1184700085 0.2446 None gnomAD-3.1.2 6.58E-06
25576 63 S/N 151 rs1184700085 0.2446 None gnomAD-4.0.0 6.57678E-06
25576 63 S/R 151 None 0.2446 None gnomAD-4.0.0 1.59225E-06
25576 63 S/T 151 None 0.2446 None gnomAD-4.0.0 1.32035E-05
25577 64 G/R 152 rs1482128356 0.2338 None gnomAD-2.1.1 4.03E-06
25579 66 Y/C 154 rs1707280961 0.1455 None gnomAD-3.1.2 6.58E-06
25579 66 Y/C 154 rs1707280961 0.1455 None gnomAD-4.0.0 5.07512E-06
25579 66 Y/H 154 rs1254023475 0.1455 None gnomAD-2.1.1 4.03E-06
25579 66 Y/H 154 rs1254023475 0.1455 None gnomAD-4.0.0 1.36877E-06
25580 67 T/R 155 None 0.2999 None gnomAD-4.0.0 6.84389E-07
25580 67 T/M 155 rs56372592 0.2999 None 1000 genomes 4.59265E-03
25580 67 T/M 155 rs56372592 0.2999 None gnomAD-2.1.1 1.61769E-03
25580 67 T/M 155 rs56372592 0.2999 None gnomAD-3.1.2 9.3394E-04
25580 67 T/M 155 rs56372592 0.2999 None gnomAD-4.0.0 5.79551E-04
25580 67 T/K 155 rs56372592 0.2999 None gnomAD-2.1.1 2.11159E-04
25580 67 T/K 155 rs56372592 0.2999 None gnomAD-3.1.2 2.36774E-04
25580 67 T/K 155 rs56372592 0.2999 None gnomAD-4.0.0 6.51499E-04
25580 67 T/A 155 rs371711135 0.2999 None gnomAD-2.1.1 2.15E-05
25580 67 T/A 155 rs371711135 0.2999 None gnomAD-3.1.2 9.86E-05
25580 67 T/A 155 rs371711135 0.2999 None gnomAD-4.0.0 1.6736E-05
25584 71 E/K 159 rs1217257725 0.4396 None gnomAD-2.1.1 4.03E-06
25584 71 E/K 159 rs1217257725 0.4396 None gnomAD-4.0.0 2.73746E-06
25585 72 N/K 161 rs1171173179 0.2037 None gnomAD-2.1.1 3.19E-05
25585 72 N/K 161 rs1171173179 0.2037 None gnomAD-3.1.2 1.97E-05
25585 72 N/K 161 rs1171173179 0.2037 None gnomAD-4.0.0 1.20032E-06
25586 73 S/R 162 rs757243379 0.7031 None gnomAD-2.1.1 2.86E-05
25586 73 S/R 162 rs757243379 0.7031 None gnomAD-3.1.2 6.58E-06
25586 73 S/R 162 rs757243379 0.7031 None gnomAD-4.0.0 2.47934E-06
25586 73 S/I 162 None 0.7031 None gnomAD-4.0.0 1.20032E-06
25586 73 S/G 162 rs757243379 0.7031 None gnomAD-2.1.1 8.06E-06
25586 73 S/G 162 rs757243379 0.7031 None gnomAD-4.0.0 5.47488E-06
25587 74 S/N 163 None 0.7518 None gnomAD-4.0.0 1.20033E-06
25588 75 G/R 164 rs1275050402 0.3834 None gnomAD-2.1.1 4.03E-06
25588 75 G/R 164 rs1275050402 0.3834 None gnomAD-3.1.2 6.58E-06
25588 75 G/R 164 rs1275050402 0.3834 None gnomAD-4.0.0 2.5636E-06
25589 76 T/A 165 rs794729499 0.5721 None gnomAD-2.1.1 4.03E-06
25589 76 T/A 165 rs794729499 0.5721 None gnomAD-3.1.2 6.57E-06
25589 76 T/A 165 rs794729499 0.5721 None gnomAD-4.0.0 3.71902E-06
25590 77 K/N 166 rs1707266415 0.8451 None gnomAD-3.1.2 6.57E-06
25590 77 K/N 166 rs1707266415 0.8451 None gnomAD-4.0.0 6.57497E-06
25590 77 K/R 166 rs1348119178 0.8451 None gnomAD-2.1.1 4.03E-06
25590 77 K/R 166 rs1348119178 0.8451 None gnomAD-4.0.0 1.59207E-06
25592 79 A/V 169 rs1707265300 0.4817 None gnomAD-4.0.0 1.59217E-06
25592 79 A/T 169 None 0.4817 None gnomAD-4.0.0 3.18432E-06
25593 80 F/Y 171 rs547186080 0.7662 None gnomAD-2.1.1 7.15E-06
25593 80 F/Y 171 rs547186080 0.7662 None gnomAD-3.1.2 1.31E-05
25593 80 F/Y 171 rs547186080 0.7662 None gnomAD-4.0.0 8.0579E-06
25598 85 V/I 177 rs763761448 1.4304 None gnomAD-2.1.1 8.06E-06
25598 85 V/I 177 rs763761448 1.4304 None gnomAD-4.0.0 1.59212E-06