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

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
28550 1 V/D 1 rs727505194 0.3669 None gnomAD-2.1.1 1.21E-05
28550 1 V/D 1 rs727505194 0.3669 None gnomAD-3.1.2 1.32E-05
28550 1 V/D 1 rs727505194 0.3669 None gnomAD-4.0.0 4.95944E-06
28551 2 P/R 2 None 0.1229 None gnomAD-4.0.0 1.59255E-06
28551 2 P/T 2 rs142478636 0.1229 None gnomAD-2.1.1 1.97059E-04
28551 2 P/T 2 rs142478636 0.1229 None gnomAD-3.1.2 1.51298E-04
28551 2 P/T 2 rs142478636 0.1229 None 1000 genomes 7.98722E-04
28551 2 P/T 2 rs142478636 0.1229 None gnomAD-4.0.0 1.8163E-04
28552 3 S/G 3 rs1404561736 0.2161 None gnomAD-2.1.1 4.04E-06
28552 3 S/G 3 rs1404561736 0.2161 None gnomAD-3.1.2 6.57E-06
28552 3 S/G 3 rs1404561736 0.2161 None gnomAD-4.0.0 1.85963E-06
28553 4 P/L 4 rs1303551225 0.2913 None gnomAD-3.1.2 1.32E-05
28553 4 P/L 4 rs1303551225 0.2913 None gnomAD-4.0.0 5.12755E-06
28554 5 P/S 5 None 0.1247 None gnomAD-4.0.0 1.36878E-06
28555 6 T/A 6 None 0.4417 None gnomAD-4.0.0 1.59219E-06
28555 6 T/K 6 None 0.4417 None gnomAD-4.0.0 6.8437E-07
28555 6 T/M 6 rs778254289 0.4417 None gnomAD-2.1.1 2.02E-05
28555 6 T/M 6 rs778254289 0.4417 None gnomAD-4.0.0 9.58118E-06
28558 9 E/A 11 None 0.5132 None gnomAD-4.0.0 1.59197E-06
28559 10 I/V 12 rs1156788911 0.2261 None gnomAD-2.1.1 4.03E-06
28559 10 I/V 12 rs1156788911 0.2261 None gnomAD-4.0.0 1.59185E-06
28560 11 T/A 13 rs748636733 0.5250 None gnomAD-2.1.1 4.03E-06
28560 11 T/A 13 rs748636733 0.5250 None gnomAD-4.0.0 1.59183E-06
28560 11 T/S 13 rs1703208399 0.5250 None gnomAD-4.0.0 1.59182E-06
28561 12 S/C 14 rs781472455 0.4384 None gnomAD-2.1.1 4.29E-05
28561 12 S/C 14 rs781472455 0.4384 None gnomAD-3.1.2 3.95E-05
28561 12 S/C 14 rs781472455 0.4384 None gnomAD-4.0.0 5.51093E-05
28561 12 S/P 14 rs1703206822 0.4384 None gnomAD-3.1.2 6.57E-06
28561 12 S/P 14 rs1703206822 0.4384 None gnomAD-4.0.0 6.57462E-06
28562 13 V/M 15 None 0.3507 None gnomAD-4.0.0 1.59183E-06
28563 14 T/N 16 rs1186514108 0.2917 None gnomAD-2.1.1 8.06E-06
28563 14 T/N 16 rs1186514108 0.2917 None gnomAD-3.1.2 6.58E-06
28563 14 T/N 16 rs1186514108 0.2917 None gnomAD-4.0.0 3.84537E-06
28564 15 K/E 17 rs755352127 0.3056 None gnomAD-2.1.1 4.03E-05
28564 15 K/E 17 rs755352127 0.3056 None gnomAD-4.0.0 1.91007E-05
28564 15 K/I 17 rs199859344 0.3056 None gnomAD-2.1.1 5.86678E-04
28564 15 K/I 17 rs199859344 0.3056 None gnomAD-3.1.2 1.6957E-03
28564 15 K/I 17 rs199859344 0.3056 None 1000 genomes 2.59585E-03
28564 15 K/I 17 rs199859344 0.3056 None gnomAD-4.0.0 3.31552E-04
28565 16 E/Q 18 rs1703203626 0.5866 None gnomAD-4.0.0 1.59174E-06
28566 17 S/C 19 None 0.1488 None gnomAD-4.0.0 6.84278E-07
28566 17 S/F 19 rs267599031 0.1488 None gnomAD-2.1.1 7.15E-06
28566 17 S/F 19 rs267599031 0.1488 None gnomAD-3.1.2 6.58E-06
28566 17 S/F 19 rs267599031 0.1488 None gnomAD-4.0.0 1.17761E-05
28567 18 M/K 20 None 0.0767 None gnomAD-4.0.0 6.84268E-07
28567 18 M/T 20 None 0.0767 None gnomAD-4.0.0 1.36854E-06
28568 19 T/I 21 rs756726107 0.1850 None gnomAD-2.1.1 8.06E-06
28568 19 T/I 21 rs756726107 0.1850 None gnomAD-3.1.2 6.58E-06
28568 19 T/I 21 rs756726107 0.1850 None gnomAD-4.0.0 3.09894E-06
28570 21 C/R 23 rs753342822 0.1713 None gnomAD-2.1.1 4.03E-06
28570 21 C/R 23 rs753342822 0.1713 None gnomAD-4.0.0 1.36853E-06
28570 21 C/Y 23 rs1038148800 0.1713 None gnomAD-2.1.1 3.19E-05
28570 21 C/Y 23 rs1038148800 0.1713 None gnomAD-3.1.2 6.57E-06
28570 21 C/Y 23 rs1038148800 0.1713 None gnomAD-4.0.0 1.8593E-06
28571 22 W/R 24 None 0.1172 None gnomAD-4.0.0 3.60097E-06
28571 22 W/S 24 None 0.1172 None gnomAD-4.0.0 6.84259E-07
28573 24 R/K 26 None 0.5986 None gnomAD-4.0.0 1.59155E-06
28574 25 P/S 27 None 0.1792 None gnomAD-4.0.0 2.40064E-06
28575 26 E/D 28 rs752650483 1.0261 None gnomAD-2.1.1 7.15E-06
28575 26 E/D 28 rs752650483 1.0261 None gnomAD-4.0.0 1.59153E-06
28575 26 E/G 28 rs1703193280 1.0261 None gnomAD-3.1.2 6.57E-06
28575 26 E/G 28 rs1703193280 1.0261 None gnomAD-4.0.0 6.57376E-06
28575 26 E/K 28 rs760762822 1.0261 None gnomAD-2.1.1 3.93E-05
28575 26 E/K 28 rs760762822 1.0261 None gnomAD-3.1.2 3.94E-05
28575 26 E/K 28 rs760762822 1.0261 None gnomAD-4.0.0 5.70177E-05
28576 27 S/R 29 rs1313703882 0.4700 None gnomAD-4.0.0 1.20032E-06
28577 28 D/E 30 None 0.4054 None gnomAD-4.0.0 1.36851E-06
28577 28 D/N 30 None 0.4054 None gnomAD-4.0.0 1.5915E-06
28578 29 G/R 31 rs1381804106 0.1738 None gnomAD-2.1.1 4.03E-06
28578 29 G/R 31 rs1381804106 0.1738 None gnomAD-4.0.0 1.59148E-06
28579 30 G/A 32 rs767264941 0.5035 None gnomAD-2.1.1 4.03E-06
28579 30 G/A 32 rs767264941 0.5035 None gnomAD-4.0.0 1.59149E-06
28579 30 G/C 32 None 0.5035 None gnomAD-4.0.0 3.60097E-06
28580 31 S/G 33 rs759326015 0.1716 None gnomAD-2.1.1 4.03E-06
28580 31 S/G 33 rs759326015 0.1716 None gnomAD-4.0.0 3.18298E-06
28581 32 E/Q 34 None 0.8596 None gnomAD-4.0.0 1.59146E-06
28582 33 I/K 35 rs201688358 0.1836 None gnomAD-2.1.1 3.57E-05
28582 33 I/K 35 rs201688358 0.1836 None gnomAD-3.1.2 1.24961E-04
28582 33 I/K 35 rs201688358 0.1836 None gnomAD-4.0.0 1.85931E-05
28582 33 I/T 35 None 0.1836 None gnomAD-4.0.0 6.84252E-07
28583 34 S/C 36 None 0.2490 None gnomAD-4.0.0 6.84253E-07
28583 34 S/F 36 rs1553562507 0.2490 None gnomAD-4.0.0 1.36851E-06
28583 34 S/P 36 rs763032657 0.2490 None gnomAD-2.1.1 8.05E-06
28583 34 S/P 36 rs763032657 0.2490 None gnomAD-3.1.2 6.58E-06
28583 34 S/P 36 rs763032657 0.2490 None gnomAD-4.0.0 6.81736E-06
28584 35 G/E 37 None 0.0829 None gnomAD-2.1.1 4.03E-06
28584 35 G/E 37 None 0.0829 None gnomAD-4.0.0 2.05276E-06
28584 35 G/V 37 rs992420765 0.0829 None gnomAD-4.0.0 6.84255E-07
28586 37 I/K 39 rs773336002 0.1304 None gnomAD-2.1.1 4.03E-06
28586 37 I/K 39 rs773336002 0.1304 None gnomAD-3.1.2 6.57E-06
28586 37 I/K 39 rs773336002 0.1304 None gnomAD-4.0.0 3.04486E-06
28586 37 I/L 39 None 0.1304 None gnomAD-4.0.0 3.42126E-06
28586 37 I/V 39 rs1187128207 0.1304 None gnomAD-3.1.2 6.57E-06
28586 37 I/V 39 rs1187128207 0.1304 None gnomAD-4.0.0 2.47889E-06
28589 40 R/K 42 rs769856738 0.1836 None gnomAD-2.1.1 4.03E-06
28589 40 R/K 42 rs769856738 0.1836 None gnomAD-4.0.0 3.18304E-06
28590 41 R/L 43 None 0.2360 None gnomAD-4.0.0 2.05277E-06
28590 41 R/P 43 rs375667028 0.2360 None gnomAD-2.1.1 4.03E-06
28590 41 R/P 43 rs375667028 0.2360 None gnomAD-4.0.0 6.84258E-07
28590 41 R/Q 43 rs375667028 0.2360 None gnomAD-2.1.1 1.25107E-04
28590 41 R/Q 43 rs375667028 0.2360 None gnomAD-3.1.2 1.1834E-04
28590 41 R/Q 43 rs375667028 0.2360 None gnomAD-4.0.0 9.04842E-05
28591 42 E/K 44 None 0.2587 None gnomAD-4.0.0 2.737E-06
28591 42 E/Q 44 rs556819067 0.2587 None gnomAD-4.0.0 6.84251E-07
28592 43 K/R 50 None 0.4546 None gnomAD-4.0.0 4.77445E-06
28594 45 S/T 60 rs1703174198 0.2472 None gnomAD-4.0.0 1.59153E-06
28596 47 R/K 64 None 0.7650 None gnomAD-4.0.0 1.20032E-06
28597 48 W/R 65 rs1575611720 0.2150 None gnomAD-4.0.0 3.18287E-06
28599 50 R/C 67 rs755081931 0.3584 None gnomAD-2.1.1 7.14E-06
28599 50 R/C 67 rs755081931 0.3584 None gnomAD-3.1.2 6.58E-06
28599 50 R/C 67 rs755081931 0.3584 None gnomAD-4.0.0 8.67683E-06
28599 50 R/H 67 rs558543425 0.3584 None gnomAD-2.1.1 1.79E-05
28599 50 R/H 67 rs558543425 0.3584 None gnomAD-3.1.2 1.97E-05
28599 50 R/H 67 rs558543425 0.3584 None 1000 genomes 1.99681E-04
28599 50 R/H 67 rs558543425 0.3584 None gnomAD-4.0.0 1.98299E-05
28599 50 R/P 67 rs558543425 0.3584 None gnomAD-2.1.1 4.02E-06
28599 50 R/P 67 rs558543425 0.3584 None gnomAD-4.0.0 2.05268E-06
28599 50 R/S 67 rs755081931 0.3584 None gnomAD-2.1.1 4.02E-06
28599 50 R/S 67 rs755081931 0.3584 None gnomAD-4.0.0 4.78968E-06
28600 51 V/A 68 None 0.2689 None gnomAD-4.0.0 1.20032E-06
28603 54 K/I 72 None 0.8994 None gnomAD-4.0.0 1.59124E-06
28603 54 K/N 72 rs778444893 0.8994 None gnomAD-4.0.0 6.84212E-07
28604 55 P/T 75 rs1208500218 0.3411 None gnomAD-2.1.1 4.02E-06
28604 55 P/T 75 rs1208500218 0.3411 None gnomAD-4.0.0 1.3684E-06
28605 56 V/L 77 None 0.1945 None gnomAD-4.0.0 1.20032E-06
28606 57 Y/C 83 rs748945937 0.6250 None gnomAD-2.1.1 4.02E-06
28606 57 Y/F 83 rs748945937 0.6250 None gnomAD-2.1.1 4.02E-06
28606 57 Y/F 83 rs748945937 0.6250 None gnomAD-4.0.0 3.1826E-06
28606 57 Y/H 83 rs757029350 0.6250 None gnomAD-2.1.1 4.02E-06
28606 57 Y/H 83 rs757029350 0.6250 None gnomAD-4.0.0 6.36507E-06
28607 58 D/E 88 None 0.7764 None gnomAD-4.0.0 1.5913E-06
28607 58 D/H 88 rs879085011 0.7764 None gnomAD-3.1.2 6.57E-06
28607 58 D/H 88 rs879085011 0.7764 None gnomAD-4.0.0 6.57333E-06
28609 60 R/G 90 None 0.5478 None gnomAD-4.0.0 1.59128E-06
28609 60 R/K 90 None 0.5478 None gnomAD-4.0.0 6.84214E-07
28609 60 R/T 90 rs755662471 0.5478 None gnomAD-2.1.1 4.02E-06
28609 60 R/T 90 rs755662471 0.5478 None gnomAD-4.0.0 6.84214E-07
28613 64 T/A 94 rs1341127613 0.5344 None gnomAD-2.1.1 4.02E-06
28613 64 T/A 94 rs1341127613 0.5344 None gnomAD-4.0.0 3.42098E-06
28613 64 T/I 94 rs368615862 0.5344 None gnomAD-2.1.1 3.57E-05
28613 64 T/I 94 rs368615862 0.5344 None gnomAD-3.1.2 3.95E-05
28613 64 T/I 94 rs368615862 0.5344 None gnomAD-4.0.0 5.89333E-05
28613 64 T/S 94 rs1341127613 0.5344 None gnomAD-2.1.1 4.02E-06
28613 64 T/S 94 rs1341127613 0.5344 None gnomAD-4.0.0 1.36839E-06
28615 66 L/F 97 rs978201175 0.1139 None gnomAD-4.0.0 2.7368E-06
28616 67 R/L 98 rs373942982 0.5814 None gnomAD-3.1.2 6.57E-06
28616 67 R/L 98 rs373942982 0.5814 None gnomAD-4.0.0 6.57454E-06
28616 67 R/Q 98 rs373942982 0.5814 None gnomAD-2.1.1 2.14E-05
28616 67 R/Q 98 rs373942982 0.5814 None gnomAD-3.1.2 3.29E-05
28616 67 R/Q 98 rs373942982 0.5814 None gnomAD-4.0.0 2.23096E-05
28616 67 R/W 98 rs754025981 0.5814 None gnomAD-2.1.1 2.14E-05
28616 67 R/W 98 rs754025981 0.5814 None gnomAD-3.1.2 3.95E-05
28616 67 R/W 98 rs754025981 0.5814 None gnomAD-4.0.0 3.53241E-05
28619 70 C/S 102 rs74853087 0.1602 None gnomAD-4.0.0 2.40065E-06
28619 70 C/Y 102 None 0.1602 None gnomAD-4.0.0 3.60097E-06
28620 71 E/Q 103 None 0.2878 None gnomAD-4.0.0 1.59123E-06
28621 72 Y/H 104 rs751308383 0.1025 None gnomAD-2.1.1 1.21E-05
28621 72 Y/H 104 rs751308383 0.1025 None gnomAD-3.1.2 6.57E-06
28621 72 Y/H 104 rs751308383 0.1025 None gnomAD-4.0.0 1.36331E-05
28623 74 Y/C 106 None 0.1019 None gnomAD-4.0.0 1.20032E-06
28624 75 R/C 107 rs398124458 0.1354 None gnomAD-2.1.1 8.04E-06
28624 75 R/C 107 rs398124458 0.1354 None gnomAD-4.0.0 4.10519E-06
28624 75 R/H 107 rs538641703 0.1354 None gnomAD-2.1.1 1.14181E-04
28624 75 R/H 107 rs538641703 0.1354 None gnomAD-3.1.2 2.63E-05
28624 75 R/H 107 rs538641703 0.1354 None 1000 genomes 1.99681E-04
28624 75 R/H 107 rs538641703 0.1354 None gnomAD-4.0.0 7.37399E-05
28625 76 V/I 108 None 0.0705 None gnomAD-4.0.0 1.20033E-06
28626 77 Y/F 109 None 0.1504 None gnomAD-4.0.0 1.20032E-06
28626 77 Y/H 109 rs1477861188 0.1504 None gnomAD-2.1.1 4.02E-06
28626 77 Y/H 109 rs1477861188 0.1504 None gnomAD-4.0.0 1.59119E-06
28632 83 G/A 115 rs794729517 0.1989 None gnomAD-2.1.1 4.02E-06
28632 83 G/A 115 rs794729517 0.1989 None gnomAD-3.1.2 6.58E-06
28632 83 G/A 115 rs794729517 0.1989 None gnomAD-4.0.0 6.57549E-06
28633 84 L/R 117 None 0.4030 None gnomAD-4.0.0 2.40064E-06
28635 86 L/I 119 rs2154158514 0.8480 None gnomAD-3.1.2 6.57E-06
28635 86 L/I 119 rs2154158514 0.8480 None gnomAD-4.0.0 6.56823E-06
28636 87 P/R 120 rs879238812 0.2660 None gnomAD-2.1.1 7.14E-06
28636 87 P/R 120 rs879238812 0.2660 None gnomAD-3.1.2 1.31E-05
28636 87 P/R 120 rs879238812 0.2660 None gnomAD-4.0.0 3.8435E-06
28639 90 T/A 123 rs1198379778 0.4691 None gnomAD-2.1.1 4.02E-06
28639 90 T/A 123 rs1198379778 0.4691 None gnomAD-3.1.2 6.6E-06
28639 90 T/A 123 rs1198379778 0.4691 None gnomAD-4.0.0 3.09977E-06
28639 90 T/N 123 rs1316337733 0.4691 None gnomAD-2.1.1 4.02E-06
28639 90 T/N 123 rs1316337733 0.4691 None gnomAD-4.0.0 1.5912E-06
28639 90 T/P 123 None 0.4691 None gnomAD-4.0.0 6.84204E-07
28640 91 S/C 124 rs952971526 0.1782 None gnomAD-3.1.2 6.57E-06
28640 91 S/C 124 rs952971526 0.1782 None gnomAD-4.0.0 4.05999E-06
28640 91 S/P 124 rs1703134059 0.1782 None gnomAD-3.1.2 6.57E-06
28640 91 S/P 124 rs1703134059 0.1782 None gnomAD-4.0.0 2.03003E-06
28641 92 P/R 125 None 0.6884 None gnomAD-4.0.0 1.59126E-06
28642 93 L/F 126 None 0.3694 None gnomAD-4.0.0 6.842E-07
28642 93 L/S 126 None 0.3694 None gnomAD-4.0.0 1.20032E-06
28644 95 R/G 129 None 0.4805 None gnomAD-4.0.0 9.60257E-06
28644 95 R/S 129 rs1322931412 0.4805 None gnomAD-2.1.1 4.02E-06
28644 95 R/S 129 rs1322931412 0.4805 None gnomAD-3.1.2 6.58E-06
28644 95 R/S 129 rs1322931412 0.4805 None gnomAD-4.0.0 6.40669E-06
28645 96 A/E 130 None 0.0667 None gnomAD-4.0.0 6.84201E-07
28645 96 A/T 130 rs879226652 0.0667 None gnomAD-2.1.1 8.04E-06
28645 96 A/T 130 rs879226652 0.0667 None gnomAD-4.0.0 3.18249E-06
28645 96 A/V 130 rs375603504 0.0667 None gnomAD-2.1.1 1.07E-05
28645 96 A/V 130 rs375603504 0.0667 None gnomAD-3.1.2 1.97E-05
28645 96 A/V 130 rs375603504 0.0667 None gnomAD-4.0.0 9.91526E-06
28647 98 D/N 132 rs1378020700 0.5690 None gnomAD-3.1.2 6.57E-06
28647 98 D/N 132 rs1378020700 0.5690 None gnomAD-4.0.0 7.105E-06