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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 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
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

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
21956 1 K/T 1 rs779688235 0.5649 None gnomAD-2.1.1 2.08E-05
21956 1 K/T 1 rs779688235 0.5649 None gnomAD-3.1.2 1.97E-05
21956 1 K/T 1 rs779688235 0.5649 None gnomAD-4.0.0 1.6212E-05
21957 2 P/L 2 rs879192020 0.1200 None gnomAD-2.1.1 4.15E-06
21957 2 P/L 2 rs879192020 0.1200 None gnomAD-3.1.2 3.29E-05
21957 2 P/L 2 rs879192020 0.1200 None gnomAD-4.0.0 1.49606E-05
21957 2 P/R 2 None 0.1200 None gnomAD-4.0.0 6.88611E-07
21958 3 G/D 3 rs1221271558 0.2480 None gnomAD-4.0.0 7.56872E-06
21959 4 P/L 4 None 0.2507 None gnomAD-4.0.0 6.87087E-07
21959 4 P/R 4 None 0.2507 None gnomAD-4.0.0 1.37417E-06
21960 5 P/L 5 None 0.1102 None gnomAD-4.0.0 1.20033E-06
21960 5 P/T 5 None 0.1102 None gnomAD-4.0.0 1.20033E-06
21961 6 A/T 6 rs778340197 0.2584 None gnomAD-2.1.1 4.09E-06
21961 6 A/T 6 rs778340197 0.2584 None gnomAD-3.1.2 6.58E-06
21961 6 A/T 6 rs778340197 0.2584 None gnomAD-4.0.0 6.57756E-06
21965 10 I/M 12 None 0.3019 None gnomAD-4.0.0 3.19797E-06
21965 10 I/T 12 rs1575938216 0.3019 None gnomAD-4.0.0 2.05676E-06
21967 12 K/E 14 None 0.6834 None gnomAD-4.0.0 3.60097E-06
21967 12 K/N 14 None 0.6834 None gnomAD-4.0.0 8.40225E-06
21969 14 Y/C 16 rs777698555 0.5132 None gnomAD-2.1.1 8.49E-05
21969 14 Y/C 16 rs777698555 0.5132 None gnomAD-3.1.2 1.97E-05
21969 14 Y/C 16 rs777698555 0.5132 None gnomAD-4.0.0 4.21819E-05
21970 15 S/L 17 None 0.2444 None gnomAD-4.0.0 2.05488E-06
21971 16 D/E 18 rs1313945258 0.4256 None gnomAD-4.0.0 6.84795E-07
21971 16 D/N 18 None 0.4256 None gnomAD-4.0.0 1.59448E-06
21972 17 R/C 19 rs755916258 0.2484 None gnomAD-2.1.1 8.08E-06
21972 17 R/C 19 rs755916258 0.2484 None gnomAD-3.1.2 2.63E-05
21972 17 R/C 19 rs755916258 0.2484 None gnomAD-4.0.0 1.92258E-05
21972 17 R/H 19 rs200217934 0.2484 None gnomAD-2.1.1 7.53E-05
21972 17 R/H 19 rs200217934 0.2484 None gnomAD-3.1.2 5.26E-05
21972 17 R/H 19 rs200217934 0.2484 None gnomAD-4.0.0 8.80622E-05
21973 18 A/V 20 None 0.1071 None gnomAD-4.0.0 1.20032E-06
21974 19 M/I 21 rs751625996 0.3758 None gnomAD-2.1.1 7.67E-05
21974 19 M/I 21 rs751625996 0.3758 None gnomAD-3.1.2 6.58E-06
21974 19 M/I 21 rs751625996 0.3758 None gnomAD-4.0.0 2.79036E-05
21974 19 M/R 21 rs373530806 0.3758 None gnomAD-2.1.1 8.07E-06
21974 19 M/R 21 rs373530806 0.3758 None gnomAD-4.0.0 1.36921E-06
21974 19 M/T 21 rs373530806 0.3758 None gnomAD-2.1.1 4.03E-06
21974 19 M/T 21 rs373530806 0.3758 None gnomAD-4.0.0 2.73842E-06
21974 19 M/V 21 rs370691527 0.3758 None gnomAD-2.1.1 4.04E-06
21974 19 M/V 21 rs370691527 0.3758 None gnomAD-3.1.2 1.97E-05
21974 19 M/V 21 rs370691527 0.3758 None gnomAD-4.0.0 8.68142E-06
21975 20 L/F 22 None 0.1289 None gnomAD-4.0.0 6.84602E-07
21975 20 L/P 22 rs766511481 0.1289 None gnomAD-2.1.1 1.61E-05
21975 20 L/P 22 rs766511481 0.1289 None gnomAD-4.0.0 1.43765E-05
21975 20 L/V 22 None 0.1289 None gnomAD-4.0.0 6.84602E-07
21977 22 W/S 24 None 0.0840 None gnomAD-4.0.0 6.84578E-07
21978 23 E/K 25 None 0.4498 None gnomAD-4.0.0 1.20032E-06
21979 24 P/A 26 rs1360266668 0.4484 None gnomAD-2.1.1 4.03E-06
21979 24 P/L 26 rs773647071 0.4484 None gnomAD-2.1.1 2.82E-05
21979 24 P/L 26 rs773647071 0.4484 None gnomAD-3.1.2 1.97E-05
21979 24 P/L 26 rs773647071 0.4484 None gnomAD-4.0.0 1.05413E-05
21979 24 P/Q 26 None 0.4484 None gnomAD-4.0.0 1.36917E-06
21979 24 P/R 26 rs773647071 0.4484 None gnomAD-2.1.1 3.19E-05
21979 24 P/R 26 rs773647071 0.4484 None gnomAD-3.1.2 6.58E-06
21979 24 P/R 26 rs773647071 0.4484 None gnomAD-4.0.0 6.58042E-06
21979 24 P/S 26 None 0.4484 None gnomAD-4.0.0 1.59322E-06
21980 25 P/L 27 None 0.1666 None gnomAD-4.0.0 1.59316E-06
21980 25 P/S 27 None 0.1666 None gnomAD-4.0.0 1.20032E-06
21981 26 L/F 28 rs1414709360 1.0262 None gnomAD-2.1.1 7.16E-06
21981 26 L/F 28 rs1414709360 1.0262 None gnomAD-3.1.2 6.58E-06
21981 26 L/F 28 rs1414709360 1.0262 None gnomAD-4.0.0 3.72004E-06
21983 28 D/N 30 rs2048004611 0.3099 None gnomAD-4.0.0 1.59314E-06
21984 29 G/R 31 None 0.3304 None gnomAD-4.0.0 1.20039E-06
21985 30 G/S 32 None 0.5430 None gnomAD-4.0.0 1.59311E-06
21985 30 G/V 32 None 0.5430 None gnomAD-4.0.0 1.20039E-06
21986 31 S/P 33 rs1170003837 0.1675 None gnomAD-4.0.0 1.59315E-06
21987 32 E/D 34 None 0.9179 None gnomAD-4.0.0 1.59322E-06
21988 33 I/L 35 None 0.2097 None gnomAD-4.0.0 1.5932E-06
21988 33 I/T 35 rs776884578 0.2097 None gnomAD-2.1.1 1.21E-05
21988 33 I/T 35 rs776884578 0.2097 None gnomAD-4.0.0 7.53029E-06
21989 34 T/A 36 rs1183678109 0.3512 None gnomAD-2.1.1 4.03E-06
21989 34 T/A 36 rs1183678109 0.3512 None gnomAD-4.0.0 1.59323E-06
21990 35 N/D 37 rs1356541458 0.1374 None gnomAD-2.1.1 3.19E-05
21990 35 N/D 37 rs1356541458 0.1374 None gnomAD-3.1.2 1.32E-05
21990 35 N/D 37 rs1356541458 0.1374 None gnomAD-4.0.0 1.86013E-06
21990 35 N/K 37 None 0.1374 None gnomAD-4.0.0 1.20038E-06
21990 35 N/Y 37 None 0.1374 None gnomAD-4.0.0 6.84599E-07
21991 36 Y/D 38 None 0.1064 None gnomAD-4.0.0 1.5932E-06
21991 36 Y/H 38 rs1407550215 0.1064 None gnomAD-3.1.2 1.32E-05
21991 36 Y/H 38 rs1407550215 0.1064 None gnomAD-4.0.0 1.31506E-05
21992 37 I/V 39 None 0.1819 None gnomAD-4.0.0 1.59321E-06
21993 38 V/A 40 rs1483586965 0.1109 None gnomAD-4.0.0 1.59318E-06
21994 39 D/E 41 None 0.1064 None gnomAD-4.0.0 1.20036E-06
21995 40 K/R 42 rs773998370 0.2517 None gnomAD-2.1.1 8.07E-06
21995 40 K/R 42 rs773998370 0.2517 None gnomAD-3.1.2 6.58E-06
21995 40 K/R 42 rs773998370 0.2517 None gnomAD-4.0.0 3.84756E-06
21996 41 R/C 43 rs577114038 0.1340 None gnomAD-2.1.1 1.07438E-04
21996 41 R/C 43 rs577114038 0.1340 None gnomAD-3.1.2 4.6E-05
21996 41 R/C 43 rs577114038 0.1340 None 1000 genomes 1.99681E-04
21996 41 R/C 43 rs577114038 0.1340 None gnomAD-4.0.0 4.89799E-05
21996 41 R/H 43 rs374489349 0.1340 None gnomAD-2.1.1 3.58E-05
21996 41 R/H 43 rs374489349 0.1340 None gnomAD-3.1.2 3.29E-05
21996 41 R/H 43 rs374489349 0.1340 None gnomAD-4.0.0 4.58827E-05
21997 42 E/G 44 None 0.2099 None gnomAD-4.0.0 2.40067E-06
21997 42 E/K 44 rs1228774408 0.2099 None gnomAD-2.1.1 8.07E-06
21997 42 E/K 44 rs1228774408 0.2099 None gnomAD-4.0.0 3.18629E-06
22001 46 P/L 63 rs777788378 0.6626 None gnomAD-2.1.1 4.03E-06
22001 46 P/L 63 rs777788378 0.6626 None gnomAD-4.0.0 6.84554E-07
22001 46 P/R 63 rs777788378 0.6626 None gnomAD-3.1.2 1.32E-05
22001 46 P/R 63 rs777788378 0.6626 None gnomAD-4.0.0 1.85998E-06
22002 47 N/K 64 rs756154183 0.5099 None gnomAD-2.1.1 2.02E-05
22002 47 N/K 64 rs756154183 0.5099 None gnomAD-4.0.0 7.96541E-06
22002 47 N/S 64 rs2047996309 0.5099 None gnomAD-4.0.0 3.42275E-06
22003 48 W/R 65 rs1299666551 0.2037 None gnomAD-3.1.2 6.58E-06
22003 48 W/R 65 rs1299666551 0.2037 None gnomAD-4.0.0 2.4801E-06
22004 49 A/D 66 rs1379206431 0.3121 None gnomAD-2.1.1 4.03E-06
22004 49 A/D 66 rs1379206431 0.3121 None gnomAD-4.0.0 1.59316E-06
22004 49 A/T 66 None 0.3121 None gnomAD-4.0.0 1.20032E-06
22005 50 Q/H 67 rs747951231 0.6698 None gnomAD-2.1.1 4.44E-05
22005 50 Q/H 67 rs747951231 0.6698 None gnomAD-4.0.0 3.21742E-05
22007 52 S/A 69 None 0.2382 None gnomAD-4.0.0 1.20032E-06
22007 52 S/F 69 rs1433594102 0.2382 None gnomAD-2.1.1 4.03E-06
22007 52 S/F 69 rs1433594102 0.2382 None gnomAD-4.0.0 1.5931E-06
22008 53 A/E 70 rs751787608 0.4814 None gnomAD-2.1.1 8.07E-06
22008 53 A/E 70 rs751787608 0.4814 None gnomAD-4.0.0 1.36911E-06
22008 53 A/V 70 rs751787608 0.4814 None gnomAD-2.1.1 4.03E-06
22008 53 A/V 70 rs751787608 0.4814 None gnomAD-3.1.2 1.32E-05
22008 53 A/V 70 rs751787608 0.4814 None gnomAD-4.0.0 1.17804E-05
22010 55 V/A 77 rs2047989715 0.1152 None gnomAD-3.1.2 6.58E-06
22010 55 V/A 77 rs2047989715 0.1152 None gnomAD-4.0.0 2.48013E-06
22010 55 V/E 77 None 0.1152 None gnomAD-4.0.0 1.36912E-06
22010 55 V/M 77 rs759353605 0.1152 None gnomAD-3.1.2 1.97E-05
22010 55 V/M 77 rs759353605 0.1152 None gnomAD-4.0.0 3.10021E-06
22011 56 P/H 83 None 0.6077 None gnomAD-4.0.0 1.20034E-06
22011 56 P/S 83 rs758402332 0.6077 None gnomAD-2.1.1 4.03E-06
22011 56 P/S 83 rs758402332 0.6077 None gnomAD-4.0.0 3.18631E-06
22012 57 I/T 88 rs1356992317 0.4933 None gnomAD-4.0.0 1.59313E-06
22013 58 T/I 89 rs2047988324 0.1747 None gnomAD-3.1.2 6.58E-06
22013 58 T/I 89 rs2047988324 0.1747 None gnomAD-4.0.0 3.84754E-06
22014 59 S/N 90 rs750531050 0.2877 None gnomAD-2.1.1 8.07E-06
22014 59 S/N 90 rs750531050 0.2877 None gnomAD-4.0.0 2.05368E-06
22014 59 S/R 90 None 0.2877 None gnomAD-4.0.0 1.20039E-06
22014 59 S/T 90 rs750531050 0.2877 None gnomAD-2.1.1 4.03E-06
22014 59 S/T 90 rs750531050 0.2877 None gnomAD-4.0.0 3.42281E-06
22016 61 S/I 92 rs1424506370 0.3715 None gnomAD-2.1.1 4.03E-06
22016 61 S/I 92 rs1424506370 0.3715 None gnomAD-4.0.0 1.59316E-06
22017 62 V/A 93 None 0.1583 None gnomAD-4.0.0 6.84611E-07
22017 62 V/M 93 rs375663566 0.1583 None gnomAD-2.1.1 2.02E-05
22017 62 V/M 93 rs375663566 0.1583 None gnomAD-3.1.2 2.63E-05
22017 62 V/M 93 rs375663566 0.1583 None gnomAD-4.0.0 2.04618E-05
22018 63 E/D 94 rs727503579 0.5321 None gnomAD-2.1.1 1.21E-05
22018 63 E/D 94 rs727503579 0.5321 None gnomAD-3.1.2 6.58E-06
22018 63 E/D 94 rs727503579 0.5321 None gnomAD-4.0.0 2.48027E-05
22018 63 E/G 94 None 0.5321 None gnomAD-4.0.0 1.20038E-06
22019 64 K/I 96 rs1164328228 0.7984 None gnomAD-3.1.2 6.58E-06
22021 66 I/L 98 rs1423136139 0.4500 None gnomAD-3.1.2 6.58E-06
22021 66 I/L 98 rs1423136139 0.4500 None gnomAD-4.0.0 1.86014E-06
22021 66 I/M 98 None 0.4500 None gnomAD-4.0.0 4.10746E-06
22021 66 I/T 98 rs774090305 0.4500 None gnomAD-2.1.1 4.03E-06
22021 66 I/T 98 rs774090305 0.4500 None gnomAD-3.1.2 6.58E-06
22021 66 I/T 98 rs774090305 0.4500 None gnomAD-4.0.0 6.5786E-06
22023 68 G/C 100 rs1060500452 0.2905 None gnomAD-2.1.1 4.03E-06
22023 68 G/C 100 rs1060500452 0.2905 None gnomAD-4.0.0 6.84606E-07
22023 68 G/R 100 rs1060500452 0.2905 None gnomAD-2.1.1 4.03E-06
22023 68 G/R 100 rs1060500452 0.2905 None gnomAD-4.0.0 3.42303E-06
22023 68 G/S 100 None 0.2905 None gnomAD-3.1.2 6.58E-06
22023 68 G/S 100 None 0.2905 None gnomAD-4.0.0 1.86031E-06
22023 68 G/V 100 rs1223364333 0.2905 None gnomAD-2.1.1 4.03E-06
22023 68 G/V 100 rs1223364333 0.2905 None gnomAD-4.0.0 1.59343E-06
22024 69 H/Q 102 rs748768545 0.3638 None gnomAD-2.1.1 4.03E-06
22024 69 H/Q 102 rs748768545 0.3638 None gnomAD-3.1.2 1.32E-05
22024 69 H/Q 102 rs748768545 0.3638 None gnomAD-4.0.0 1.86023E-06
22024 69 H/R 102 None 0.3638 None gnomAD-4.0.0 1.59336E-06
22024 69 H/Y 102 rs2047978270 0.3638 None gnomAD-4.0.0 1.59337E-06
22025 70 E/K 103 rs772896091 0.3966 None gnomAD-2.1.1 8.07E-06
22025 70 E/K 103 rs772896091 0.3966 None gnomAD-4.0.0 3.18683E-06
22026 71 Y/F 104 rs1298916237 0.0952 None gnomAD-2.1.1 4.04E-06
22026 71 Y/F 104 rs1298916237 0.0952 None gnomAD-4.0.0 3.18774E-06
22026 71 Y/H 104 None 0.0952 None gnomAD-4.0.0 1.59393E-06
22028 73 F/L 106 rs1448745860 0.1290 None gnomAD-3.1.2 6.58E-06
22028 73 F/L 106 rs1448745860 0.1290 None gnomAD-4.0.0 1.24035E-06
22029 74 R/C 107 rs769739080 0.1127 None gnomAD-2.1.1 1.08E-05
22029 74 R/C 107 rs769739080 0.1127 None gnomAD-3.1.2 1.97E-05
22029 74 R/C 107 rs769739080 0.1127 None gnomAD-4.0.0 8.06415E-06
22029 74 R/H 107 rs72646868 0.1127 None gnomAD-2.1.1 5.02E-05
22029 74 R/H 107 rs72646868 0.1127 None gnomAD-3.1.2 7.9E-05
22029 74 R/H 107 rs72646868 0.1127 None gnomAD-4.0.0 7.69259E-05
22031 76 C/S 109 rs1437140291 0.0958 None gnomAD-2.1.1 3.19E-05
22031 76 C/S 109 rs1437140291 0.0958 None gnomAD-4.0.0 1.5977E-06
22033 78 E/D 111 rs768277403 0.2756 None gnomAD-2.1.1 3.24E-05
22033 78 E/D 111 rs768277403 0.2756 None gnomAD-4.0.0 1.30303E-05
22034 79 N/H 112 rs1347058381 0.0847 None gnomAD-2.1.1 3.19E-05
22034 79 N/H 112 rs1347058381 0.0847 None gnomAD-3.1.2 6.58E-06
22034 79 N/H 112 rs1347058381 0.0847 None gnomAD-4.0.0 6.57575E-06
22034 79 N/I 112 rs746824795 0.0847 None gnomAD-2.1.1 4.06E-06
22034 79 N/S 112 None 0.0847 None gnomAD-4.0.0 2.05802E-06
22035 80 K/N 113 rs373681189 0.8433 None gnomAD-2.1.1 2.52E-05
22035 80 K/N 113 rs373681189 0.8433 None gnomAD-3.1.2 5.26E-05
22035 80 K/N 113 rs373681189 0.8433 None gnomAD-4.0.0 4.53513E-05
22035 80 K/R 113 None 0.8433 None gnomAD-4.0.0 1.20032E-06
22036 81 Y/H 114 None 0.6880 None gnomAD-4.0.0 6.86201E-07
22036 81 Y/N 114 rs758640229 0.6880 None gnomAD-2.1.1 4.06E-06
22036 81 Y/N 114 rs758640229 0.6880 None gnomAD-4.0.0 6.86201E-07
22037 82 G/E 115 rs750482174 0.2002 None gnomAD-2.1.1 4.06E-06
22037 82 G/E 115 rs750482174 0.2002 None gnomAD-4.0.0 3.43143E-06
22040 85 D/N 119 rs560375322 0.5241 None gnomAD-2.1.1 1.64E-05
22040 85 D/N 119 rs560375322 0.5241 None gnomAD-3.1.2 1.32E-05
22040 85 D/N 119 rs560375322 0.5241 None 1000 genomes 1.99681E-04
22040 85 D/N 119 rs560375322 0.5241 None gnomAD-4.0.0 1.49546E-05
22040 85 D/Y 119 None 0.5241 None gnomAD-4.0.0 2.06504E-06
22042 87 V/L 121 rs764678997 0.0754 None gnomAD-2.1.1 4.13E-06
22042 87 V/L 121 rs764678997 0.0754 None gnomAD-4.0.0 1.61948E-06
22044 89 T/I 123 rs1490431835 0.2136 None gnomAD-4.0.0 1.20032E-06
22044 89 T/P 123 None 0.2136 None gnomAD-4.0.0 1.62513E-06
22046 91 P/L 126 None 0.4685 None gnomAD-4.0.0 6.96131E-07
22047 92 A/S 127 None 0.2227 None gnomAD-4.0.0 1.65944E-06
22048 93 I/M 128 rs980906933 0.3228 None gnomAD-4.0.0 6.66274E-06
22048 93 I/N 128 None 0.3228 None gnomAD-4.0.0 1.20032E-06
22048 93 I/V 128 rs1282316821 0.3228 None gnomAD-4.0.0 1.66088E-06
22049 94 A/S 130 rs2047965308 0.0690 None gnomAD-4.0.0 2.09365E-06
22050 95 K/R 131 rs2047964470 0.4403 None gnomAD-4.0.0 3.32615E-06
22051 96 N/T 132 None 1.4413 None gnomAD-4.0.0 1.66811E-06