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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
21956 1 K/T 1 rs779688235 0.2953 None gnomAD-2.1.1 2.08E-05
21956 1 K/T 1 rs779688235 0.2953 None gnomAD-3.1.2 1.97E-05
21956 1 K/T 1 rs779688235 0.2953 None gnomAD-4.0.0 1.6212E-05
21957 2 P/L 2 rs879192020 0.1142 None gnomAD-2.1.1 4.15E-06
21957 2 P/L 2 rs879192020 0.1142 None gnomAD-3.1.2 3.29E-05
21957 2 P/L 2 rs879192020 0.1142 None gnomAD-4.0.0 1.49606E-05
21957 2 P/R 2 None 0.1142 None gnomAD-4.0.0 6.88611E-07
21958 3 G/D 3 rs1221271558 0.2566 None gnomAD-4.0.0 7.56872E-06
21959 4 P/L 4 None 0.4520 None gnomAD-4.0.0 6.87087E-07
21959 4 P/R 4 None 0.4520 None gnomAD-4.0.0 1.37417E-06
21960 5 P/L 5 None 0.1243 None gnomAD-4.0.0 1.20033E-06
21960 5 P/T 5 None 0.1243 None gnomAD-4.0.0 1.20033E-06
21961 6 A/T 6 rs778340197 0.1944 None gnomAD-2.1.1 4.09E-06
21961 6 A/T 6 rs778340197 0.1944 None gnomAD-3.1.2 6.58E-06
21961 6 A/T 6 rs778340197 0.1944 None gnomAD-4.0.0 6.57756E-06
21965 10 I/M 12 None 0.2650 None gnomAD-4.0.0 3.19797E-06
21965 10 I/T 12 rs1575938216 0.2650 None gnomAD-4.0.0 2.05676E-06
21967 12 K/E 14 None 0.5592 None gnomAD-4.0.0 3.60097E-06
21967 12 K/N 14 None 0.5592 None gnomAD-4.0.0 8.40225E-06
21969 14 Y/C 16 rs777698555 0.2559 None gnomAD-2.1.1 8.49E-05
21969 14 Y/C 16 rs777698555 0.2559 None gnomAD-3.1.2 1.97E-05
21969 14 Y/C 16 rs777698555 0.2559 None gnomAD-4.0.0 4.21819E-05
21970 15 S/L 17 None 0.1629 None gnomAD-4.0.0 2.05488E-06
21971 16 D/E 18 rs1313945258 0.3328 None gnomAD-4.0.0 6.84795E-07
21971 16 D/N 18 None 0.3328 None gnomAD-4.0.0 1.59448E-06
21972 17 R/C 19 rs755916258 0.2028 None gnomAD-2.1.1 8.08E-06
21972 17 R/C 19 rs755916258 0.2028 None gnomAD-3.1.2 2.63E-05
21972 17 R/C 19 rs755916258 0.2028 None gnomAD-4.0.0 1.92258E-05
21972 17 R/H 19 rs200217934 0.2028 None gnomAD-2.1.1 7.53E-05
21972 17 R/H 19 rs200217934 0.2028 None gnomAD-3.1.2 5.26E-05
21972 17 R/H 19 rs200217934 0.2028 None gnomAD-4.0.0 8.80622E-05
21973 18 A/V 20 None 0.0968 None gnomAD-4.0.0 1.20032E-06
21974 19 M/I 21 rs751625996 0.3283 None gnomAD-2.1.1 7.67E-05
21974 19 M/I 21 rs751625996 0.3283 None gnomAD-3.1.2 6.58E-06
21974 19 M/I 21 rs751625996 0.3283 None gnomAD-4.0.0 2.79036E-05
21974 19 M/R 21 rs373530806 0.3283 None gnomAD-2.1.1 8.07E-06
21974 19 M/R 21 rs373530806 0.3283 None gnomAD-4.0.0 1.36921E-06
21974 19 M/T 21 rs373530806 0.3283 None gnomAD-2.1.1 4.03E-06
21974 19 M/T 21 rs373530806 0.3283 None gnomAD-4.0.0 2.73842E-06
21974 19 M/V 21 rs370691527 0.3283 None gnomAD-2.1.1 4.04E-06
21974 19 M/V 21 rs370691527 0.3283 None gnomAD-3.1.2 1.97E-05
21974 19 M/V 21 rs370691527 0.3283 None gnomAD-4.0.0 8.68142E-06
21975 20 L/F 22 None 0.1194 None gnomAD-4.0.0 6.84602E-07
21975 20 L/P 22 rs766511481 0.1194 None gnomAD-2.1.1 1.61E-05
21975 20 L/P 22 rs766511481 0.1194 None gnomAD-4.0.0 1.43765E-05
21975 20 L/V 22 None 0.1194 None gnomAD-4.0.0 6.84602E-07
21977 22 W/S 24 None 0.0991 None gnomAD-4.0.0 6.84578E-07
21978 23 E/K 25 None 0.3792 None gnomAD-4.0.0 1.20032E-06
21979 24 P/A 26 rs1360266668 0.4870 None gnomAD-2.1.1 4.03E-06
21979 24 P/L 26 rs773647071 0.4870 None gnomAD-2.1.1 2.82E-05
21979 24 P/L 26 rs773647071 0.4870 None gnomAD-3.1.2 1.97E-05
21979 24 P/L 26 rs773647071 0.4870 None gnomAD-4.0.0 1.05413E-05
21979 24 P/Q 26 None 0.4870 None gnomAD-4.0.0 1.36917E-06
21979 24 P/R 26 rs773647071 0.4870 None gnomAD-2.1.1 3.19E-05
21979 24 P/R 26 rs773647071 0.4870 None gnomAD-3.1.2 6.58E-06
21979 24 P/R 26 rs773647071 0.4870 None gnomAD-4.0.0 6.58042E-06
21979 24 P/S 26 None 0.4870 None gnomAD-4.0.0 1.59322E-06
21980 25 P/L 27 None 0.1703 None gnomAD-4.0.0 1.59316E-06
21980 25 P/S 27 None 0.1703 None gnomAD-4.0.0 1.20032E-06
21981 26 L/F 28 rs1414709360 1.2007 None gnomAD-2.1.1 7.16E-06
21981 26 L/F 28 rs1414709360 1.2007 None gnomAD-3.1.2 6.58E-06
21981 26 L/F 28 rs1414709360 1.2007 None gnomAD-4.0.0 3.72004E-06
21983 28 D/N 30 rs2048004611 0.2857 None gnomAD-4.0.0 1.59314E-06
21984 29 G/R 31 None 0.0975 None gnomAD-4.0.0 1.20039E-06
21985 30 G/S 32 None 0.2508 None gnomAD-4.0.0 1.59311E-06
21985 30 G/V 32 None 0.2508 None gnomAD-4.0.0 1.20039E-06
21986 31 S/P 33 rs1170003837 0.1483 None gnomAD-4.0.0 1.59315E-06
21987 32 E/D 34 None 0.7279 None gnomAD-4.0.0 1.59322E-06
21988 33 I/L 35 None 0.2024 None gnomAD-4.0.0 1.5932E-06
21988 33 I/T 35 rs776884578 0.2024 None gnomAD-2.1.1 1.21E-05
21988 33 I/T 35 rs776884578 0.2024 None gnomAD-4.0.0 7.53029E-06
21989 34 T/A 36 rs1183678109 0.3279 None gnomAD-2.1.1 4.03E-06
21989 34 T/A 36 rs1183678109 0.3279 None gnomAD-4.0.0 1.59323E-06
21990 35 N/D 37 rs1356541458 0.2262 None gnomAD-2.1.1 3.19E-05
21990 35 N/D 37 rs1356541458 0.2262 None gnomAD-3.1.2 1.32E-05
21990 35 N/D 37 rs1356541458 0.2262 None gnomAD-4.0.0 1.86013E-06
21990 35 N/K 37 None 0.2262 None gnomAD-4.0.0 1.20038E-06
21990 35 N/Y 37 None 0.2262 None gnomAD-4.0.0 6.84599E-07
21991 36 Y/D 38 None 0.1031 None gnomAD-4.0.0 1.5932E-06
21991 36 Y/H 38 rs1407550215 0.1031 None gnomAD-3.1.2 1.32E-05
21991 36 Y/H 38 rs1407550215 0.1031 None gnomAD-4.0.0 1.31506E-05
21992 37 I/V 39 None 0.2275 None gnomAD-4.0.0 1.59321E-06
21993 38 V/A 40 rs1483586965 0.1119 None gnomAD-4.0.0 1.59318E-06
21994 39 D/E 41 None 0.1568 None gnomAD-4.0.0 1.20036E-06
21995 40 K/R 42 rs773998370 0.1787 None gnomAD-2.1.1 8.07E-06
21995 40 K/R 42 rs773998370 0.1787 None gnomAD-3.1.2 6.58E-06
21995 40 K/R 42 rs773998370 0.1787 None gnomAD-4.0.0 3.84756E-06
21996 41 R/C 43 rs577114038 0.2391 None gnomAD-2.1.1 1.07438E-04
21996 41 R/C 43 rs577114038 0.2391 None gnomAD-3.1.2 4.6E-05
21996 41 R/C 43 rs577114038 0.2391 None 1000 genomes 1.99681E-04
21996 41 R/C 43 rs577114038 0.2391 None gnomAD-4.0.0 4.89799E-05
21996 41 R/H 43 rs374489349 0.2391 None gnomAD-2.1.1 3.58E-05
21996 41 R/H 43 rs374489349 0.2391 None gnomAD-3.1.2 3.29E-05
21996 41 R/H 43 rs374489349 0.2391 None gnomAD-4.0.0 4.58827E-05
21997 42 E/G 44 None 0.1719 None gnomAD-4.0.0 2.40067E-06
21997 42 E/K 44 rs1228774408 0.1719 None gnomAD-2.1.1 8.07E-06
21997 42 E/K 44 rs1228774408 0.1719 None gnomAD-4.0.0 3.18629E-06
22001 46 P/L 63 rs777788378 0.6920 None gnomAD-2.1.1 4.03E-06
22001 46 P/L 63 rs777788378 0.6920 None gnomAD-4.0.0 6.84554E-07
22001 46 P/R 63 rs777788378 0.6920 None gnomAD-3.1.2 1.32E-05
22001 46 P/R 63 rs777788378 0.6920 None gnomAD-4.0.0 1.85998E-06
22002 47 N/K 64 rs756154183 0.7851 None gnomAD-2.1.1 2.02E-05
22002 47 N/K 64 rs756154183 0.7851 None gnomAD-4.0.0 7.96541E-06
22002 47 N/S 64 rs2047996309 0.7851 None gnomAD-4.0.0 3.42275E-06
22003 48 W/R 65 rs1299666551 0.2982 None gnomAD-3.1.2 6.58E-06
22003 48 W/R 65 rs1299666551 0.2982 None gnomAD-4.0.0 2.4801E-06
22004 49 A/D 66 rs1379206431 0.3863 None gnomAD-2.1.1 4.03E-06
22004 49 A/D 66 rs1379206431 0.3863 None gnomAD-4.0.0 1.59316E-06
22004 49 A/T 66 None 0.3863 None gnomAD-4.0.0 1.20032E-06
22005 50 Q/H 67 rs747951231 0.4988 None gnomAD-2.1.1 4.44E-05
22005 50 Q/H 67 rs747951231 0.4988 None gnomAD-4.0.0 3.21742E-05
22007 52 S/A 69 None 0.2346 None gnomAD-4.0.0 1.20032E-06
22007 52 S/F 69 rs1433594102 0.2346 None gnomAD-2.1.1 4.03E-06
22007 52 S/F 69 rs1433594102 0.2346 None gnomAD-4.0.0 1.5931E-06
22008 53 A/E 70 rs751787608 0.2816 None gnomAD-2.1.1 8.07E-06
22008 53 A/E 70 rs751787608 0.2816 None gnomAD-4.0.0 1.36911E-06
22008 53 A/V 70 rs751787608 0.2816 None gnomAD-2.1.1 4.03E-06
22008 53 A/V 70 rs751787608 0.2816 None gnomAD-3.1.2 1.32E-05
22008 53 A/V 70 rs751787608 0.2816 None gnomAD-4.0.0 1.17804E-05
22010 55 V/A 77 rs2047989715 0.1398 None gnomAD-3.1.2 6.58E-06
22010 55 V/A 77 rs2047989715 0.1398 None gnomAD-4.0.0 2.48013E-06
22010 55 V/E 77 None 0.1398 None gnomAD-4.0.0 1.36912E-06
22010 55 V/M 77 rs759353605 0.1398 None gnomAD-3.1.2 1.97E-05
22010 55 V/M 77 rs759353605 0.1398 None gnomAD-4.0.0 3.10021E-06
22011 56 P/H 83 None 0.5983 None gnomAD-4.0.0 1.20034E-06
22011 56 P/S 83 rs758402332 0.5983 None gnomAD-2.1.1 4.03E-06
22011 56 P/S 83 rs758402332 0.5983 None gnomAD-4.0.0 3.18631E-06
22012 57 I/T 88 rs1356992317 0.5433 None gnomAD-4.0.0 1.59313E-06
22013 58 T/I 89 rs2047988324 0.1692 None gnomAD-3.1.2 6.58E-06
22013 58 T/I 89 rs2047988324 0.1692 None gnomAD-4.0.0 3.84754E-06
22014 59 S/N 90 rs750531050 0.2878 None gnomAD-2.1.1 8.07E-06
22014 59 S/N 90 rs750531050 0.2878 None gnomAD-4.0.0 2.05368E-06
22014 59 S/R 90 None 0.2878 None gnomAD-4.0.0 1.20039E-06
22014 59 S/T 90 rs750531050 0.2878 None gnomAD-2.1.1 4.03E-06
22014 59 S/T 90 rs750531050 0.2878 None gnomAD-4.0.0 3.42281E-06
22016 61 S/I 92 rs1424506370 0.4310 None gnomAD-2.1.1 4.03E-06
22016 61 S/I 92 rs1424506370 0.4310 None gnomAD-4.0.0 1.59316E-06
22017 62 V/A 93 None 0.1257 None gnomAD-4.0.0 6.84611E-07
22017 62 V/M 93 rs375663566 0.1257 None gnomAD-2.1.1 2.02E-05
22017 62 V/M 93 rs375663566 0.1257 None gnomAD-3.1.2 2.63E-05
22017 62 V/M 93 rs375663566 0.1257 None gnomAD-4.0.0 2.04618E-05
22018 63 E/D 94 rs727503579 0.6039 None gnomAD-2.1.1 1.21E-05
22018 63 E/D 94 rs727503579 0.6039 None gnomAD-3.1.2 6.58E-06
22018 63 E/D 94 rs727503579 0.6039 None gnomAD-4.0.0 2.48027E-05
22018 63 E/G 94 None 0.6039 None gnomAD-4.0.0 1.20038E-06
22019 64 K/I 96 rs1164328228 0.8656 None gnomAD-3.1.2 6.58E-06
22021 66 I/L 98 rs1423136139 0.3868 None gnomAD-3.1.2 6.58E-06
22021 66 I/L 98 rs1423136139 0.3868 None gnomAD-4.0.0 1.86014E-06
22021 66 I/M 98 None 0.3868 None gnomAD-4.0.0 4.10746E-06
22021 66 I/T 98 rs774090305 0.3868 None gnomAD-2.1.1 4.03E-06
22021 66 I/T 98 rs774090305 0.3868 None gnomAD-3.1.2 6.58E-06
22021 66 I/T 98 rs774090305 0.3868 None gnomAD-4.0.0 6.5786E-06
22023 68 G/C 100 rs1060500452 0.3760 None gnomAD-2.1.1 4.03E-06
22023 68 G/C 100 rs1060500452 0.3760 None gnomAD-4.0.0 6.84606E-07
22023 68 G/R 100 rs1060500452 0.3760 None gnomAD-2.1.1 4.03E-06
22023 68 G/R 100 rs1060500452 0.3760 None gnomAD-4.0.0 3.42303E-06
22023 68 G/S 100 None 0.3760 None gnomAD-3.1.2 6.58E-06
22023 68 G/S 100 None 0.3760 None gnomAD-4.0.0 1.86031E-06
22023 68 G/V 100 rs1223364333 0.3760 None gnomAD-2.1.1 4.03E-06
22023 68 G/V 100 rs1223364333 0.3760 None gnomAD-4.0.0 1.59343E-06
22024 69 H/Q 102 rs748768545 0.3789 None gnomAD-2.1.1 4.03E-06
22024 69 H/Q 102 rs748768545 0.3789 None gnomAD-3.1.2 1.32E-05
22024 69 H/Q 102 rs748768545 0.3789 None gnomAD-4.0.0 1.86023E-06
22024 69 H/R 102 None 0.3789 None gnomAD-4.0.0 1.59336E-06
22024 69 H/Y 102 rs2047978270 0.3789 None gnomAD-4.0.0 1.59337E-06
22025 70 E/K 103 rs772896091 0.2760 None gnomAD-2.1.1 8.07E-06
22025 70 E/K 103 rs772896091 0.2760 None gnomAD-4.0.0 3.18683E-06
22026 71 Y/F 104 rs1298916237 0.0960 None gnomAD-2.1.1 4.04E-06
22026 71 Y/F 104 rs1298916237 0.0960 None gnomAD-4.0.0 3.18774E-06
22026 71 Y/H 104 None 0.0960 None gnomAD-4.0.0 1.59393E-06
22028 73 F/L 106 rs1448745860 0.1081 None gnomAD-3.1.2 6.58E-06
22028 73 F/L 106 rs1448745860 0.1081 None gnomAD-4.0.0 1.24035E-06
22029 74 R/C 107 rs769739080 0.1996 None gnomAD-2.1.1 1.08E-05
22029 74 R/C 107 rs769739080 0.1996 None gnomAD-3.1.2 1.97E-05
22029 74 R/C 107 rs769739080 0.1996 None gnomAD-4.0.0 8.06415E-06
22029 74 R/H 107 rs72646868 0.1996 None gnomAD-2.1.1 5.02E-05
22029 74 R/H 107 rs72646868 0.1996 None gnomAD-3.1.2 7.9E-05
22029 74 R/H 107 rs72646868 0.1996 None gnomAD-4.0.0 7.69259E-05
22031 76 C/S 109 rs1437140291 0.1237 None gnomAD-2.1.1 3.19E-05
22031 76 C/S 109 rs1437140291 0.1237 None gnomAD-4.0.0 1.5977E-06
22033 78 E/D 111 rs768277403 0.2237 None gnomAD-2.1.1 3.24E-05
22033 78 E/D 111 rs768277403 0.2237 None gnomAD-4.0.0 1.30303E-05
22034 79 N/H 112 rs1347058381 0.0855 None gnomAD-2.1.1 3.19E-05
22034 79 N/H 112 rs1347058381 0.0855 None gnomAD-3.1.2 6.58E-06
22034 79 N/H 112 rs1347058381 0.0855 None gnomAD-4.0.0 6.57575E-06
22034 79 N/I 112 rs746824795 0.0855 None gnomAD-2.1.1 4.06E-06
22034 79 N/S 112 None 0.0855 None gnomAD-4.0.0 2.05802E-06
22035 80 K/N 113 rs373681189 0.4221 None gnomAD-2.1.1 2.52E-05
22035 80 K/N 113 rs373681189 0.4221 None gnomAD-3.1.2 5.26E-05
22035 80 K/N 113 rs373681189 0.4221 None gnomAD-4.0.0 4.53513E-05
22035 80 K/R 113 None 0.4221 None gnomAD-4.0.0 1.20032E-06
22036 81 Y/H 114 None 0.3009 None gnomAD-4.0.0 6.86201E-07
22036 81 Y/N 114 rs758640229 0.3009 None gnomAD-2.1.1 4.06E-06
22036 81 Y/N 114 rs758640229 0.3009 None gnomAD-4.0.0 6.86201E-07
22037 82 G/E 115 rs750482174 0.2121 None gnomAD-2.1.1 4.06E-06
22037 82 G/E 115 rs750482174 0.2121 None gnomAD-4.0.0 3.43143E-06
22040 85 D/N 119 rs560375322 0.5727 None gnomAD-2.1.1 1.64E-05
22040 85 D/N 119 rs560375322 0.5727 None gnomAD-3.1.2 1.32E-05
22040 85 D/N 119 rs560375322 0.5727 None 1000 genomes 1.99681E-04
22040 85 D/N 119 rs560375322 0.5727 None gnomAD-4.0.0 1.49546E-05
22040 85 D/Y 119 None 0.5727 None gnomAD-4.0.0 2.06504E-06
22042 87 V/L 121 rs764678997 0.1751 None gnomAD-2.1.1 4.13E-06
22042 87 V/L 121 rs764678997 0.1751 None gnomAD-4.0.0 1.61948E-06
22044 89 T/I 123 rs1490431835 0.1460 None gnomAD-4.0.0 1.20032E-06
22044 89 T/P 123 None 0.1460 None gnomAD-4.0.0 1.62513E-06
22046 91 P/L 126 None 0.4054 None gnomAD-4.0.0 6.96131E-07
22047 92 A/S 127 None 0.2395 None gnomAD-4.0.0 1.65944E-06
22048 93 I/M 128 rs980906933 0.5063 None gnomAD-4.0.0 6.66274E-06
22048 93 I/N 128 None 0.5063 None gnomAD-4.0.0 1.20032E-06
22048 93 I/V 128 rs1282316821 0.5063 None gnomAD-4.0.0 1.66088E-06
22049 94 A/S 130 rs2047965308 0.0686 None gnomAD-4.0.0 2.09365E-06
22050 95 K/R 131 rs2047964470 0.6050 None gnomAD-4.0.0 3.32615E-06
22051 96 N/T 132 None 0.5418 None gnomAD-4.0.0 1.66811E-06