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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
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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
13965 1 V/A 1 None 0.3862 None gnomAD-4.0.0 1.36897E-06
13965 1 V/F 1 rs1311645939 0.3862 None gnomAD-2.1.1 4.03E-06
13965 1 V/F 1 rs1311645939 0.3862 None gnomAD-4.0.0 1.59282E-06
13965 1 V/G 1 rs878854306 0.3862 None gnomAD-2.1.1 1.21E-05
13965 1 V/G 1 rs878854306 0.3862 None gnomAD-4.0.0 5.5791E-06
13966 2 E/Q 2 None 0.6859 None gnomAD-4.0.0 1.59281E-06
13968 4 L/R 4 rs879228460 0.4644 None gnomAD-3.1.2 6.57E-06
13968 4 L/R 4 rs879228460 0.4644 None gnomAD-4.0.0 6.57393E-06
13970 6 P/Q 7 rs1347182960 0.5092 None gnomAD-2.1.1 4.03E-06
13970 6 P/Q 7 rs1347182960 0.5092 None gnomAD-3.1.2 6.58E-06
13970 6 P/Q 7 rs1347182960 0.5092 None gnomAD-4.0.0 2.56446E-06
13970 6 P/S 7 rs189799340 0.5092 None gnomAD-2.1.1 1.07296E-04
13970 6 P/S 7 rs189799340 0.5092 None gnomAD-3.1.2 3.95E-05
13970 6 P/S 7 rs189799340 0.5092 None 1000 genomes 1.99681E-04
13970 6 P/S 7 rs189799340 0.5092 None gnomAD-4.0.0 1.7977E-05
13971 7 I/M 8 None 0.1200 None gnomAD-4.0.0 1.59241E-06
13973 9 D/G 11 None 0.5796 None gnomAD-4.0.0 1.20032E-06
13973 9 D/N 11 None 0.5796 None gnomAD-4.0.0 2.40064E-06
13974 10 V/D 13 None 0.1922 None gnomAD-4.0.0 1.36881E-06
13974 10 V/I 13 rs373881831 0.1922 None gnomAD-2.1.1 3.93E-05
13974 10 V/I 13 rs373881831 0.1922 None gnomAD-3.1.2 4.6E-05
13974 10 V/I 13 rs373881831 0.1922 None gnomAD-4.0.0 3.34746E-05
13975 11 T/I 14 rs1417052657 0.4990 None gnomAD-3.1.2 1.32E-05
13975 11 T/I 14 rs1417052657 0.4990 None gnomAD-4.0.0 1.31572E-05
13975 11 T/N 14 rs1417052657 0.4990 None gnomAD-2.1.1 4.03E-06
13975 11 T/N 14 rs1417052657 0.4990 None gnomAD-4.0.0 1.36884E-06
13975 11 T/S 14 None 0.4990 None gnomAD-4.0.0 1.36884E-06
13976 12 I/L 16 rs773772232 0.1220 None gnomAD-2.1.1 4.03E-06
13976 12 I/L 16 rs773772232 0.1220 None gnomAD-4.0.0 1.5923E-06
13976 12 I/N 16 None 0.1220 None gnomAD-4.0.0 1.20032E-06
13977 13 Y/F 18 None 0.4724 None gnomAD-4.0.0 2.40064E-06
13978 14 E/G 23 rs1275851499 0.3259 None gnomAD-3.1.2 1.31E-05
13978 14 E/G 23 rs1275851499 0.3259 None gnomAD-4.0.0 1.3148E-05
13978 14 E/K 23 rs746667196 0.3259 None gnomAD-2.1.1 2.01E-05
13978 14 E/K 23 rs746667196 0.3259 None gnomAD-3.1.2 1.97E-05
13978 14 E/K 23 rs746667196 0.3259 None gnomAD-4.0.0 5.20708E-05
13979 15 K/R 24 rs1559980687 0.5032 None gnomAD-2.1.1 4.03E-06
13979 15 K/R 24 rs1559980687 0.5032 None gnomAD-4.0.0 1.59234E-06
13982 18 A/S 28 rs865925187 0.1329 None gnomAD-4.0.0 2.05324E-06
13982 18 A/T 28 rs865925187 0.1329 None gnomAD-4.0.0 6.84412E-07
13982 18 A/V 28 rs1344724361 0.1329 None gnomAD-3.1.2 6.58E-06
13982 18 A/V 28 rs1344724361 0.1329 None gnomAD-4.0.0 6.57825E-06
13985 21 D/E 31 None 0.3772 None gnomAD-4.0.0 1.20032E-06
13985 21 D/G 31 rs779561282 0.3772 None gnomAD-2.1.1 4.02E-06
13985 21 D/G 31 rs779561282 0.3772 None gnomAD-4.0.0 4.77681E-06
13986 22 A/G 33 None 0.0878 None gnomAD-4.0.0 1.59234E-06
13986 22 A/T 33 rs1208784748 0.0878 None gnomAD-4.0.0 1.20032E-06
13987 23 E/A 34 rs2060288635 0.2242 None gnomAD-3.1.2 6.57E-06
13987 23 E/A 34 rs2060288635 0.2242 None gnomAD-4.0.0 6.57454E-06
13988 24 I/M 35 rs745782442 0.0998 None gnomAD-2.1.1 4.02E-06
13988 24 I/M 35 rs745782442 0.0998 None gnomAD-4.0.0 1.59231E-06
13988 24 I/V 35 None 0.0998 None gnomAD-4.0.0 1.59224E-06
13990 26 E/D 40 None 0.5753 None gnomAD-4.0.0 1.36881E-06
13991 27 A/S 41 rs1247699000 0.3732 None gnomAD-2.1.1 4.02E-06
13991 27 A/S 41 rs1247699000 0.3732 None gnomAD-4.0.0 1.5923E-06
13992 28 D/G 42 None 0.7233 None gnomAD-4.0.0 5.47514E-06
13992 28 D/H 42 rs778681628 0.7233 None gnomAD-2.1.1 8.05E-06
13992 28 D/H 42 rs778681628 0.7233 None gnomAD-4.0.0 3.18458E-06
13992 28 D/V 42 None 0.7233 None gnomAD-4.0.0 6.84392E-07
13993 29 I/V 44 rs978359923 0.3531 None gnomAD-4.0.0 1.20032E-06
13994 30 P/L 45 rs1380914730 0.7136 None gnomAD-2.1.1 4.02E-06
13994 30 P/L 45 rs1380914730 0.7136 None gnomAD-4.0.0 1.36881E-06
13994 30 P/S 45 rs201232835 0.7136 None gnomAD-2.1.1 3.62E-05
13994 30 P/S 45 rs201232835 0.7136 None gnomAD-3.1.2 1.97E-05
13994 30 P/S 45 rs201232835 0.7136 None gnomAD-4.0.0 1.17782E-05
13994 30 P/T 45 rs201232835 0.7136 None gnomAD-2.1.1 4.02E-06
13994 30 P/T 45 rs201232835 0.7136 None gnomAD-4.0.0 1.36883E-06
13996 32 Q/R 47 rs756260320 0.6234 None gnomAD-2.1.1 4.03E-06
13996 32 Q/R 47 rs756260320 0.6234 None gnomAD-4.0.0 1.50604E-05
13998 34 K/N 49 None 0.3467 None gnomAD-4.0.0 1.20032E-06
13998 34 K/Q 49 None 0.3467 None gnomAD-4.0.0 1.5931E-06
13998 34 K/T 49 None 0.3467 None gnomAD-4.0.0 1.20032E-06
14001 37 G/A 52 None 0.4611 None gnomAD-4.0.0 1.59325E-06
14001 37 G/R 52 rs866553786 0.4611 None gnomAD-2.1.1 4.03E-06
14001 37 G/R 52 rs866553786 0.4611 None gnomAD-3.1.2 6.58E-06
14001 37 G/R 52 rs866553786 0.4611 None gnomAD-4.0.0 2.56512E-06
14002 38 E/K 55 None 0.7162 None gnomAD-4.0.0 2.05374E-06
14003 39 L/F 56 rs767585297 0.4650 None gnomAD-2.1.1 1.21E-05
14003 39 L/F 56 rs767585297 0.4650 None gnomAD-3.1.2 1.32E-05
14003 39 L/F 56 rs767585297 0.4650 None gnomAD-4.0.0 6.41248E-06
14003 39 L/P 56 rs1162691488 0.4650 None gnomAD-2.1.1 4.03E-06
14003 39 L/P 56 rs1162691488 0.4650 None gnomAD-4.0.0 2.05369E-06
14003 39 L/R 56 None 0.4650 None gnomAD-4.0.0 6.84563E-07
14005 41 R/S 59 None 0.7398 None gnomAD-4.0.0 1.59332E-06
14006 42 P/L 70 None 0.6379 None gnomAD-4.0.0 3.60099E-06
14006 42 P/S 70 None 0.6379 None gnomAD-4.0.0 1.20033E-06
14008 44 P/A 111 rs1455864622 0.8599 None gnomAD-2.1.1 3.19E-05
14008 44 P/A 111 rs1455864622 0.8599 None gnomAD-3.1.2 6.58E-06
14008 44 P/A 111 rs1455864622 0.8599 None gnomAD-4.0.0 6.57644E-06
14008 44 P/H 111 rs751709914 0.8599 None gnomAD-2.1.1 8.07E-06
14008 44 P/H 111 rs751709914 0.8599 None gnomAD-4.0.0 5.47761E-06
14008 44 P/L 111 rs751709914 0.8599 None gnomAD-2.1.1 2.86E-05
14008 44 P/L 111 rs751709914 0.8599 None gnomAD-3.1.2 4.6E-05
14008 44 P/L 111 rs751709914 0.8599 None gnomAD-4.0.0 3.90688E-05
14008 44 P/S 111 None 0.8599 None gnomAD-4.0.0 1.20034E-06
14011 47 E/K 122 None 0.3317 None gnomAD-4.0.0 1.60873E-06
14012 48 I/V 123 rs1425644741 0.2768 None gnomAD-4.0.0 6.42164E-06
14013 49 K/T 125 rs1188399173 0.4667 None gnomAD-3.1.2 6.57E-06
14013 49 K/T 125 rs1188399173 0.4667 None gnomAD-4.0.0 5.1503E-06
14014 50 A/E 127 rs1200308695 0.4460 None gnomAD-2.1.1 4.08E-06
14014 50 A/E 127 rs1200308695 0.4460 None gnomAD-4.0.0 1.60109E-06
14015 51 E/K 130 rs2060226377 0.7355 None gnomAD-4.0.0 1.59968E-06
14015 51 E/V 130 None 0.7355 None gnomAD-4.0.0 1.59987E-06
14016 52 G/C 131 None 0.3846 None gnomAD-4.0.0 6.85578E-07
14016 52 G/R 131 rs367751077 0.3846 None gnomAD-2.1.1 1.22E-05
14016 52 G/R 131 rs367751077 0.3846 None gnomAD-3.1.2 3.29E-05
14016 52 G/R 131 rs367751077 0.3846 None gnomAD-4.0.0 1.9246E-05
14016 52 G/S 131 rs367751077 0.3846 None gnomAD-2.1.1 1.63E-05
14016 52 G/S 131 rs367751077 0.3846 None gnomAD-3.1.2 1.97E-05
14016 52 G/S 131 rs367751077 0.3846 None gnomAD-4.0.0 1.05543E-05
14017 53 G/R 134 rs1161979802 0.1184 None gnomAD-3.1.2 6.57E-06
14017 53 G/R 134 rs1161979802 0.1184 None gnomAD-4.0.0 2.57034E-06
14018 54 K/N 135 rs766572300 0.3804 None gnomAD-2.1.1 4.06E-06
14018 54 K/N 135 rs766572300 0.3804 None gnomAD-4.0.0 2.05553E-06
14019 55 R/C 136 rs763499817 0.0827 None gnomAD-2.1.1 8.11E-06
14019 55 R/C 136 rs763499817 0.0827 None gnomAD-3.1.2 1.32E-05
14019 55 R/C 136 rs763499817 0.0827 None gnomAD-4.0.0 1.055E-05
14019 55 R/H 136 rs374683153 0.0827 None gnomAD-2.1.1 2.01348E-04
14019 55 R/H 136 rs374683153 0.0827 None gnomAD-3.1.2 6.58E-05
14019 55 R/H 136 rs374683153 0.0827 None 1000 genomes 5.99042E-04
14019 55 R/H 136 rs374683153 0.0827 None gnomAD-4.0.0 1.27817E-04
14019 55 R/P 136 rs374683153 0.0827 None gnomAD-2.1.1 4.05E-06
14019 55 R/P 136 rs374683153 0.0827 None gnomAD-4.0.0 6.8515E-07
14021 57 L/F 138 None 0.0805 None gnomAD-4.0.0 6.8478E-07
14024 60 H/P 141 None 0.3578 None gnomAD-4.0.0 3.42318E-06
14024 60 H/Q 141 rs1276854895 0.3578 None gnomAD-2.1.1 4.03E-06
14024 60 H/Q 141 rs1276854895 0.3578 None gnomAD-4.0.0 1.59357E-06
14024 60 H/R 141 rs2288563 0.3578 None gnomAD-2.1.1 2.85073E-02
14024 60 H/R 141 rs2288563 0.3578 None gnomAD-3.1.2 2.15088E-02
14024 60 H/R 141 rs2288563 0.3578 None 1000 genomes 3.05511E-02
14024 60 H/R 141 rs2288563 0.3578 None gnomAD-4.0.0 2.36264E-02
14025 61 K/E 143 rs762241231 0.7850 None gnomAD-2.1.1 4.03E-06
14025 61 K/E 143 rs762241231 0.7850 None gnomAD-4.0.0 6.84613E-06
14025 61 K/R 143 None 0.7850 None gnomAD-4.0.0 1.59342E-06
14026 62 V/L 144 None 0.1299 None gnomAD-4.0.0 1.20032E-06
14028 64 L/M 146 rs777098368 0.5589 None gnomAD-4.0.0 6.84567E-07
14029 65 D/N 148 rs794729426 0.6523 None gnomAD-3.1.2 6.58E-06
14029 65 D/N 148 rs794729426 0.6523 None gnomAD-4.0.0 5.12963E-06
14032 68 G/D 152 None 0.2196 None gnomAD-4.0.0 1.59272E-06
14032 68 G/R 152 None 0.2196 None gnomAD-4.0.0 1.20032E-06
14032 68 G/S 152 rs2060219895 0.2196 None gnomAD-3.1.2 6.58E-06
14032 68 G/S 152 rs2060219895 0.2196 None gnomAD-4.0.0 6.57523E-06
14032 68 G/V 152 rs1407857451 0.2196 None gnomAD-2.1.1 4.03E-06
14033 69 E/D 153 rs759297459 0.5518 None gnomAD-2.1.1 4.02E-06
14033 69 E/D 153 rs759297459 0.5518 None gnomAD-4.0.0 6.84451E-07
14035 71 L/F 155 rs1433887768 0.2800 None gnomAD-2.1.1 8.05E-06
14035 71 L/F 155 rs1433887768 0.2800 None gnomAD-3.1.2 6.58E-06
14035 71 L/F 155 rs1433887768 0.2800 None gnomAD-4.0.0 8.05933E-06
14036 72 Y/H 156 None 0.0969 None gnomAD-4.0.0 3.18513E-06
14038 74 A/T 158 rs2060216548 0.1345 None gnomAD-4.0.0 3.42228E-06
14039 75 L/F 159 None 0.7695 None gnomAD-4.0.0 2.73785E-06
14040 76 N/Y 161 rs2154228320 0.7562 None gnomAD-3.1.2 6.58E-06
14040 76 N/Y 161 rs2154228320 0.7562 None gnomAD-4.0.0 6.57056E-06
14041 77 A/V 162 rs1174010742 0.1386 None gnomAD-2.1.1 4.02E-06
14041 77 A/V 162 rs1174010742 0.1386 None gnomAD-4.0.0 3.18534E-06
14043 79 T/P 164 None 0.1612 None gnomAD-4.0.0 2.40064E-06
14045 81 A/G 166 None 0.1075 None gnomAD-4.0.0 6.84505E-07
14045 81 A/V 166 None 0.1075 None gnomAD-4.0.0 1.36901E-06
14046 82 I/T 168 rs776291578 0.3675 None gnomAD-3.1.2 6.58E-06
14046 82 I/T 168 rs776291578 0.3675 None gnomAD-4.0.0 3.71985E-06
14046 82 I/V 168 None 0.3675 None gnomAD-4.0.0 3.60097E-06
14048 84 T/I 171 rs1362774927 0.4279 None gnomAD-2.1.1 4.02E-06
14048 84 T/I 171 rs1362774927 0.4279 None gnomAD-4.0.0 1.59287E-06
14049 85 V/L 172 rs1206523368 0.1824 None gnomAD-4.0.0 1.59282E-06