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

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
13965 1 V/A 1 None 0.1534 None gnomAD-4.0.0 1.36897E-06
13965 1 V/F 1 rs1311645939 0.1534 None gnomAD-2.1.1 4.03E-06
13965 1 V/F 1 rs1311645939 0.1534 None gnomAD-4.0.0 1.59282E-06
13965 1 V/G 1 rs878854306 0.1534 None gnomAD-2.1.1 1.21E-05
13965 1 V/G 1 rs878854306 0.1534 None gnomAD-4.0.0 5.5791E-06
13966 2 E/Q 2 None 0.7373 None gnomAD-4.0.0 1.59281E-06
13968 4 L/R 4 rs879228460 0.4255 None gnomAD-3.1.2 6.57E-06
13968 4 L/R 4 rs879228460 0.4255 None gnomAD-4.0.0 6.57393E-06
13970 6 P/Q 7 rs1347182960 0.4799 None gnomAD-2.1.1 4.03E-06
13970 6 P/Q 7 rs1347182960 0.4799 None gnomAD-3.1.2 6.58E-06
13970 6 P/Q 7 rs1347182960 0.4799 None gnomAD-4.0.0 2.56446E-06
13970 6 P/S 7 rs189799340 0.4799 None gnomAD-2.1.1 1.07296E-04
13970 6 P/S 7 rs189799340 0.4799 None gnomAD-3.1.2 3.95E-05
13970 6 P/S 7 rs189799340 0.4799 None 1000 genomes 1.99681E-04
13970 6 P/S 7 rs189799340 0.4799 None gnomAD-4.0.0 1.7977E-05
13971 7 I/M 8 None 0.1217 None gnomAD-4.0.0 1.59241E-06
13973 9 D/G 11 None 0.6009 None gnomAD-4.0.0 1.20032E-06
13973 9 D/N 11 None 0.6009 None gnomAD-4.0.0 2.40064E-06
13974 10 V/D 13 None 0.2067 None gnomAD-4.0.0 1.36881E-06
13974 10 V/I 13 rs373881831 0.2067 None gnomAD-2.1.1 3.93E-05
13974 10 V/I 13 rs373881831 0.2067 None gnomAD-3.1.2 4.6E-05
13974 10 V/I 13 rs373881831 0.2067 None gnomAD-4.0.0 3.34746E-05
13975 11 T/I 14 rs1417052657 0.4936 None gnomAD-3.1.2 1.32E-05
13975 11 T/I 14 rs1417052657 0.4936 None gnomAD-4.0.0 1.31572E-05
13975 11 T/N 14 rs1417052657 0.4936 None gnomAD-2.1.1 4.03E-06
13975 11 T/N 14 rs1417052657 0.4936 None gnomAD-4.0.0 1.36884E-06
13975 11 T/S 14 None 0.4936 None gnomAD-4.0.0 1.36884E-06
13976 12 I/L 16 rs773772232 0.1186 None gnomAD-2.1.1 4.03E-06
13976 12 I/L 16 rs773772232 0.1186 None gnomAD-4.0.0 1.5923E-06
13976 12 I/N 16 None 0.1186 None gnomAD-4.0.0 1.20032E-06
13977 13 Y/F 18 None 0.5768 None gnomAD-4.0.0 2.40064E-06
13978 14 E/G 23 rs1275851499 0.3864 None gnomAD-3.1.2 1.31E-05
13978 14 E/G 23 rs1275851499 0.3864 None gnomAD-4.0.0 1.3148E-05
13978 14 E/K 23 rs746667196 0.3864 None gnomAD-2.1.1 2.01E-05
13978 14 E/K 23 rs746667196 0.3864 None gnomAD-3.1.2 1.97E-05
13978 14 E/K 23 rs746667196 0.3864 None gnomAD-4.0.0 5.20708E-05
13979 15 K/R 24 rs1559980687 0.7009 None gnomAD-2.1.1 4.03E-06
13979 15 K/R 24 rs1559980687 0.7009 None gnomAD-4.0.0 1.59234E-06
13982 18 A/S 28 rs865925187 0.1348 None gnomAD-4.0.0 2.05324E-06
13982 18 A/T 28 rs865925187 0.1348 None gnomAD-4.0.0 6.84412E-07
13982 18 A/V 28 rs1344724361 0.1348 None gnomAD-3.1.2 6.58E-06
13982 18 A/V 28 rs1344724361 0.1348 None gnomAD-4.0.0 6.57825E-06
13985 21 D/E 31 None 0.3971 None gnomAD-4.0.0 1.20032E-06
13985 21 D/G 31 rs779561282 0.3971 None gnomAD-2.1.1 4.02E-06
13985 21 D/G 31 rs779561282 0.3971 None gnomAD-4.0.0 4.77681E-06
13986 22 A/G 33 None 0.0926 None gnomAD-4.0.0 1.59234E-06
13986 22 A/T 33 rs1208784748 0.0926 None gnomAD-4.0.0 1.20032E-06
13987 23 E/A 34 rs2060288635 0.2581 None gnomAD-3.1.2 6.57E-06
13987 23 E/A 34 rs2060288635 0.2581 None gnomAD-4.0.0 6.57454E-06
13988 24 I/M 35 rs745782442 0.1014 None gnomAD-2.1.1 4.02E-06
13988 24 I/M 35 rs745782442 0.1014 None gnomAD-4.0.0 1.59231E-06
13988 24 I/V 35 None 0.1014 None gnomAD-4.0.0 1.59224E-06
13990 26 E/D 40 None 0.3041 None gnomAD-4.0.0 1.36881E-06
13991 27 A/S 41 rs1247699000 0.3890 None gnomAD-2.1.1 4.02E-06
13991 27 A/S 41 rs1247699000 0.3890 None gnomAD-4.0.0 1.5923E-06
13992 28 D/G 42 None 0.5397 None gnomAD-4.0.0 5.47514E-06
13992 28 D/H 42 rs778681628 0.5397 None gnomAD-2.1.1 8.05E-06
13992 28 D/H 42 rs778681628 0.5397 None gnomAD-4.0.0 3.18458E-06
13992 28 D/V 42 None 0.5397 None gnomAD-4.0.0 6.84392E-07
13993 29 I/V 44 rs978359923 0.1958 None gnomAD-4.0.0 1.20032E-06
13994 30 P/L 45 rs1380914730 0.7200 None gnomAD-2.1.1 4.02E-06
13994 30 P/L 45 rs1380914730 0.7200 None gnomAD-4.0.0 1.36881E-06
13994 30 P/S 45 rs201232835 0.7200 None gnomAD-2.1.1 3.62E-05
13994 30 P/S 45 rs201232835 0.7200 None gnomAD-3.1.2 1.97E-05
13994 30 P/S 45 rs201232835 0.7200 None gnomAD-4.0.0 1.17782E-05
13994 30 P/T 45 rs201232835 0.7200 None gnomAD-2.1.1 4.02E-06
13994 30 P/T 45 rs201232835 0.7200 None gnomAD-4.0.0 1.36883E-06
13996 32 Q/R 47 rs756260320 0.5986 None gnomAD-2.1.1 4.03E-06
13996 32 Q/R 47 rs756260320 0.5986 None gnomAD-4.0.0 1.50604E-05
13998 34 K/N 49 None 0.3493 None gnomAD-4.0.0 1.20032E-06
13998 34 K/Q 49 None 0.3493 None gnomAD-4.0.0 1.5931E-06
13998 34 K/T 49 None 0.3493 None gnomAD-4.0.0 1.20032E-06
14001 37 G/A 52 None 0.4418 None gnomAD-4.0.0 1.59325E-06
14001 37 G/R 52 rs866553786 0.4418 None gnomAD-2.1.1 4.03E-06
14001 37 G/R 52 rs866553786 0.4418 None gnomAD-3.1.2 6.58E-06
14001 37 G/R 52 rs866553786 0.4418 None gnomAD-4.0.0 2.56512E-06
14002 38 E/K 55 None 0.7990 None gnomAD-4.0.0 2.05374E-06
14003 39 L/F 56 rs767585297 0.4931 None gnomAD-2.1.1 1.21E-05
14003 39 L/F 56 rs767585297 0.4931 None gnomAD-3.1.2 1.32E-05
14003 39 L/F 56 rs767585297 0.4931 None gnomAD-4.0.0 6.41248E-06
14003 39 L/P 56 rs1162691488 0.4931 None gnomAD-2.1.1 4.03E-06
14003 39 L/P 56 rs1162691488 0.4931 None gnomAD-4.0.0 2.05369E-06
14003 39 L/R 56 None 0.4931 None gnomAD-4.0.0 6.84563E-07
14005 41 R/S 59 None 0.7748 None gnomAD-4.0.0 1.59332E-06
14006 42 P/L 70 None 0.6285 None gnomAD-4.0.0 3.60099E-06
14006 42 P/S 70 None 0.6285 None gnomAD-4.0.0 1.20033E-06
14008 44 P/A 111 rs1455864622 0.8406 None gnomAD-2.1.1 3.19E-05
14008 44 P/A 111 rs1455864622 0.8406 None gnomAD-3.1.2 6.58E-06
14008 44 P/A 111 rs1455864622 0.8406 None gnomAD-4.0.0 6.57644E-06
14008 44 P/H 111 rs751709914 0.8406 None gnomAD-2.1.1 8.07E-06
14008 44 P/H 111 rs751709914 0.8406 None gnomAD-4.0.0 5.47761E-06
14008 44 P/L 111 rs751709914 0.8406 None gnomAD-2.1.1 2.86E-05
14008 44 P/L 111 rs751709914 0.8406 None gnomAD-3.1.2 4.6E-05
14008 44 P/L 111 rs751709914 0.8406 None gnomAD-4.0.0 3.90688E-05
14008 44 P/S 111 None 0.8406 None gnomAD-4.0.0 1.20034E-06
14011 47 E/K 122 None 0.3995 None gnomAD-4.0.0 1.60873E-06
14012 48 I/V 123 rs1425644741 0.2919 None gnomAD-4.0.0 6.42164E-06
14013 49 K/T 125 rs1188399173 0.4812 None gnomAD-3.1.2 6.57E-06
14013 49 K/T 125 rs1188399173 0.4812 None gnomAD-4.0.0 5.1503E-06
14014 50 A/E 127 rs1200308695 0.5003 None gnomAD-2.1.1 4.08E-06
14014 50 A/E 127 rs1200308695 0.5003 None gnomAD-4.0.0 1.60109E-06
14015 51 E/K 130 rs2060226377 0.8003 None gnomAD-4.0.0 1.59968E-06
14015 51 E/V 130 None 0.8003 None gnomAD-4.0.0 1.59987E-06
14016 52 G/C 131 None 0.4289 None gnomAD-4.0.0 6.85578E-07
14016 52 G/R 131 rs367751077 0.4289 None gnomAD-2.1.1 1.22E-05
14016 52 G/R 131 rs367751077 0.4289 None gnomAD-3.1.2 3.29E-05
14016 52 G/R 131 rs367751077 0.4289 None gnomAD-4.0.0 1.9246E-05
14016 52 G/S 131 rs367751077 0.4289 None gnomAD-2.1.1 1.63E-05
14016 52 G/S 131 rs367751077 0.4289 None gnomAD-3.1.2 1.97E-05
14016 52 G/S 131 rs367751077 0.4289 None gnomAD-4.0.0 1.05543E-05
14017 53 G/R 134 rs1161979802 0.1518 None gnomAD-3.1.2 6.57E-06
14017 53 G/R 134 rs1161979802 0.1518 None gnomAD-4.0.0 2.57034E-06
14018 54 K/N 135 rs766572300 0.4509 None gnomAD-2.1.1 4.06E-06
14018 54 K/N 135 rs766572300 0.4509 None gnomAD-4.0.0 2.05553E-06
14019 55 R/C 136 rs763499817 0.0914 None gnomAD-2.1.1 8.11E-06
14019 55 R/C 136 rs763499817 0.0914 None gnomAD-3.1.2 1.32E-05
14019 55 R/C 136 rs763499817 0.0914 None gnomAD-4.0.0 1.055E-05
14019 55 R/H 136 rs374683153 0.0914 None gnomAD-2.1.1 2.01348E-04
14019 55 R/H 136 rs374683153 0.0914 None gnomAD-3.1.2 6.58E-05
14019 55 R/H 136 rs374683153 0.0914 None 1000 genomes 5.99042E-04
14019 55 R/H 136 rs374683153 0.0914 None gnomAD-4.0.0 1.27817E-04
14019 55 R/P 136 rs374683153 0.0914 None gnomAD-2.1.1 4.05E-06
14019 55 R/P 136 rs374683153 0.0914 None gnomAD-4.0.0 6.8515E-07
14021 57 L/F 138 None 0.0882 None gnomAD-4.0.0 6.8478E-07
14024 60 H/P 141 None 0.4117 None gnomAD-4.0.0 3.42318E-06
14024 60 H/Q 141 rs1276854895 0.4117 None gnomAD-2.1.1 4.03E-06
14024 60 H/Q 141 rs1276854895 0.4117 None gnomAD-4.0.0 1.59357E-06
14024 60 H/R 141 rs2288563 0.4117 None gnomAD-2.1.1 2.85073E-02
14024 60 H/R 141 rs2288563 0.4117 None gnomAD-3.1.2 2.15088E-02
14024 60 H/R 141 rs2288563 0.4117 None 1000 genomes 3.05511E-02
14024 60 H/R 141 rs2288563 0.4117 None gnomAD-4.0.0 2.36264E-02
14025 61 K/E 143 rs762241231 0.8043 None gnomAD-2.1.1 4.03E-06
14025 61 K/E 143 rs762241231 0.8043 None gnomAD-4.0.0 6.84613E-06
14025 61 K/R 143 None 0.8043 None gnomAD-4.0.0 1.59342E-06
14026 62 V/L 144 None 0.1214 None gnomAD-4.0.0 1.20032E-06
14028 64 L/M 146 rs777098368 0.4434 None gnomAD-4.0.0 6.84567E-07
14029 65 D/N 148 rs794729426 0.6334 None gnomAD-3.1.2 6.58E-06
14029 65 D/N 148 rs794729426 0.6334 None gnomAD-4.0.0 5.12963E-06
14032 68 G/D 152 None 0.2351 None gnomAD-4.0.0 1.59272E-06
14032 68 G/R 152 None 0.2351 None gnomAD-4.0.0 1.20032E-06
14032 68 G/S 152 rs2060219895 0.2351 None gnomAD-3.1.2 6.58E-06
14032 68 G/S 152 rs2060219895 0.2351 None gnomAD-4.0.0 6.57523E-06
14032 68 G/V 152 rs1407857451 0.2351 None gnomAD-2.1.1 4.03E-06
14033 69 E/D 153 rs759297459 0.5134 None gnomAD-2.1.1 4.02E-06
14033 69 E/D 153 rs759297459 0.5134 None gnomAD-4.0.0 6.84451E-07
14035 71 L/F 155 rs1433887768 0.2554 None gnomAD-2.1.1 8.05E-06
14035 71 L/F 155 rs1433887768 0.2554 None gnomAD-3.1.2 6.58E-06
14035 71 L/F 155 rs1433887768 0.2554 None gnomAD-4.0.0 8.05933E-06
14036 72 Y/H 156 None 0.0999 None gnomAD-4.0.0 3.18513E-06
14038 74 A/T 158 rs2060216548 0.1181 None gnomAD-4.0.0 3.42228E-06
14039 75 L/F 159 None 0.6104 None gnomAD-4.0.0 2.73785E-06
14040 76 N/Y 161 rs2154228320 0.5110 None gnomAD-3.1.2 6.58E-06
14040 76 N/Y 161 rs2154228320 0.5110 None gnomAD-4.0.0 6.57056E-06
14041 77 A/V 162 rs1174010742 0.1283 None gnomAD-2.1.1 4.02E-06
14041 77 A/V 162 rs1174010742 0.1283 None gnomAD-4.0.0 3.18534E-06
14043 79 T/P 164 None 0.1381 None gnomAD-4.0.0 2.40064E-06
14045 81 A/G 166 None 0.1031 None gnomAD-4.0.0 6.84505E-07
14045 81 A/V 166 None 0.1031 None gnomAD-4.0.0 1.36901E-06
14046 82 I/T 168 rs776291578 0.3892 None gnomAD-3.1.2 6.58E-06
14046 82 I/T 168 rs776291578 0.3892 None gnomAD-4.0.0 3.71985E-06
14046 82 I/V 168 None 0.3892 None gnomAD-4.0.0 3.60097E-06
14048 84 T/I 171 rs1362774927 0.3792 None gnomAD-2.1.1 4.02E-06
14048 84 T/I 171 rs1362774927 0.3792 None gnomAD-4.0.0 1.59287E-06
14049 85 V/L 172 rs1206523368 0.1553 None gnomAD-4.0.0 1.59282E-06