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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
32202 1 V/A 1 rs763365622 0.3460 None gnomAD-2.1.1 4.02E-06
32202 1 V/A 1 rs763365622 0.3460 None gnomAD-3.1.2 1.31E-05
32202 1 V/A 1 rs763365622 0.3460 None gnomAD-4.0.0 3.0984E-06
32202 1 V/L 1 rs755717335 0.3460 None gnomAD-2.1.1 2.01E-05
32202 1 V/L 1 rs755717335 0.3460 None gnomAD-3.1.2 1.97E-05
32202 1 V/L 1 rs755717335 0.3460 None gnomAD-4.0.0 4.58555E-05
32202 1 V/M 1 rs755717335 0.3460 None gnomAD-2.1.1 4.02E-06
32205 4 V/A 4 rs922829895 0.2500 None gnomAD-4.0.0 1.59116E-06
32205 4 V/L 4 None 0.2500 None gnomAD-4.0.0 1.59116E-06
32205 4 V/M 4 rs372312129 0.2500 None gnomAD-2.1.1 4.02E-06
32205 4 V/M 4 rs372312129 0.2500 None gnomAD-4.0.0 1.59116E-06
32208 7 K/R 7 None 0.4698 None gnomAD-4.0.0 1.20032E-06
32213 12 D/N 14 rs764561909 0.6170 None gnomAD-2.1.1 3.21E-05
32213 12 D/N 14 rs764561909 0.6170 None gnomAD-3.1.2 5.26E-05
32213 12 D/N 14 rs764561909 0.6170 None gnomAD-4.0.0 7.12644E-05
32214 13 V/G 15 None 0.2026 None gnomAD-4.0.0 1.59113E-06
32214 13 V/I 15 rs1486085185 0.2026 None gnomAD-2.1.1 4.02E-06
32214 13 V/I 15 rs1486085185 0.2026 None gnomAD-4.0.0 6.84185E-06
32215 14 T/I 16 rs975713554 0.2771 None gnomAD-4.0.0 6.84184E-07
32215 14 T/S 16 rs975713554 0.2771 None gnomAD-2.1.1 1.61E-05
32215 14 T/S 16 rs975713554 0.2771 None gnomAD-3.1.2 2.63E-05
32215 14 T/S 16 rs975713554 0.2771 None gnomAD-4.0.0 2.47876E-05
32216 15 K/Q 17 rs771585130 0.5824 None gnomAD-2.1.1 4.02E-06
32216 15 K/Q 17 rs771585130 0.5824 None gnomAD-4.0.0 4.77333E-06
32216 15 K/T 17 rs1695519342 0.5824 None gnomAD-4.0.0 2.05254E-06
32217 16 S/F 18 rs759428862 0.3163 None gnomAD-2.1.1 8.04E-06
32217 16 S/F 18 rs759428862 0.3163 None gnomAD-4.0.0 7.95555E-06
32217 16 S/P 18 None 0.3163 None gnomAD-4.0.0 1.20032E-06
32217 16 S/T 18 None 0.3163 None gnomAD-4.0.0 2.40064E-06
32217 16 S/Y 18 rs759428862 0.3163 None gnomAD-3.1.2 6.57E-06
32217 16 S/Y 18 rs759428862 0.3163 None gnomAD-4.0.0 6.5684E-06
32219 18 V/A 20 rs1296604161 0.1060 None gnomAD-2.1.1 4.02E-06
32219 18 V/A 20 rs1296604161 0.1060 None gnomAD-4.0.0 1.59108E-06
32219 18 V/F 20 rs398124460 0.1060 None gnomAD-4.0.0 6.84178E-07
32219 18 V/I 20 None 0.1060 None gnomAD-4.0.0 4.78925E-06
32219 18 V/L 20 rs398124460 0.1060 None gnomAD-2.1.1 4.02E-06
32219 18 V/L 20 rs398124460 0.1060 None gnomAD-4.0.0 6.84178E-07
32220 19 T/I 21 rs727505204 0.1698 None gnomAD-2.1.1 4.02E-06
32220 19 T/I 21 rs727505204 0.1698 None gnomAD-4.0.0 3.42088E-06
32220 19 T/S 21 None 0.1698 None gnomAD-4.0.0 1.20032E-06
32221 20 L/V 22 rs1695511296 0.1240 None gnomAD-4.0.0 2.40064E-06
32222 21 A/P 23 None 0.1681 None gnomAD-4.0.0 6.84179E-07
32222 21 A/T 23 None 0.1681 None gnomAD-4.0.0 6.84179E-07
32223 22 W/C 24 None 0.1122 None gnomAD-4.0.0 1.20032E-06
32225 24 K/E 26 rs749032092 0.5849 None gnomAD-2.1.1 4.02E-06
32225 24 K/E 26 rs749032092 0.5849 None gnomAD-3.1.2 6.57E-06
32225 24 K/E 26 rs749032092 0.5849 None gnomAD-4.0.0 6.57367E-06
32226 25 P/S 27 rs1060500595 0.1665 None gnomAD-3.1.2 6.58E-06
32226 25 P/S 27 rs1060500595 0.1665 None gnomAD-4.0.0 6.57531E-06
32226 25 P/T 27 rs1060500595 0.1665 None gnomAD-2.1.1 4.02E-06
32226 25 P/T 27 rs1060500595 0.1665 None gnomAD-4.0.0 1.59112E-06
32228 27 Y/D 29 None 0.2527 None gnomAD-4.0.0 1.20032E-06
32228 27 Y/H 29 None 0.2527 None gnomAD-4.0.0 1.20032E-06
32228 27 Y/N 29 rs1277957429 0.2527 None gnomAD-2.1.1 3.19E-05
32228 27 Y/N 29 rs1277957429 0.2527 None gnomAD-3.1.2 6.58E-06
32228 27 Y/N 29 rs1277957429 0.2527 None gnomAD-4.0.0 6.57601E-06
32229 28 D/N 30 rs770101398 0.2584 None gnomAD-2.1.1 8.04E-06
32229 28 D/N 30 rs770101398 0.2584 None gnomAD-4.0.0 1.09469E-05
32230 29 G/S 31 None 0.0720 None gnomAD-4.0.0 1.59113E-06
32231 30 G/D 32 None 0.2153 None gnomAD-4.0.0 1.59111E-06
32231 30 G/S 32 None 0.2153 None gnomAD-4.0.0 2.40064E-06
32232 31 S/R 33 rs748359406 0.1770 None gnomAD-2.1.1 4.02E-06
32232 31 S/R 33 rs748359406 0.1770 None gnomAD-4.0.0 1.59112E-06
32233 32 R/Q 34 rs755082341 0.9251 None gnomAD-2.1.1 2.41E-05
32233 32 R/Q 34 rs755082341 0.9251 None gnomAD-3.1.2 1.32E-05
32233 32 R/Q 34 rs755082341 0.9251 None gnomAD-4.0.0 1.42524E-05
32234 33 L/H 35 None 0.2212 None gnomAD-4.0.0 1.20032E-06
32235 34 T/I 36 rs1428828704 0.3570 None gnomAD-2.1.1 4.02E-06
32235 34 T/I 36 rs1428828704 0.3570 None gnomAD-4.0.0 1.59113E-06
32235 34 T/S 36 None 0.3570 None gnomAD-4.0.0 1.20032E-06
32237 36 Y/H 38 None 0.1184 None gnomAD-4.0.0 1.59113E-06
32238 37 V/A 39 None 0.2080 None gnomAD-4.0.0 1.20032E-06
32238 37 V/L 39 rs758769330 0.2080 None gnomAD-2.1.1 4.02E-06
32238 37 V/L 39 rs758769330 0.2080 None gnomAD-4.0.0 1.59113E-06
32239 38 L/F 40 rs889392294 0.1264 None gnomAD-2.1.1 8.04E-06
32239 38 L/F 40 rs889392294 0.1264 None gnomAD-3.1.2 6.58E-06
32239 38 L/F 40 rs889392294 0.1264 None gnomAD-4.0.0 3.84352E-06
32239 38 L/P 40 None 0.1264 None gnomAD-4.0.0 4.10511E-06
32240 39 E/K 41 rs374598326 0.1273 None gnomAD-2.1.1 2.01E-05
32240 39 E/K 41 rs374598326 0.1273 None gnomAD-3.1.2 1.32E-05
32240 39 E/K 41 rs374598326 0.1273 None gnomAD-4.0.0 1.61129E-05
32240 39 E/Q 41 rs374598326 0.1273 None gnomAD-2.1.1 3.2E-05
32240 39 E/Q 41 rs374598326 0.1273 None gnomAD-3.1.2 6.58E-06
32240 39 E/Q 41 rs374598326 0.1273 None gnomAD-4.0.0 6.57782E-06
32241 40 A/D 42 rs760365458 0.1268 None gnomAD-2.1.1 4.02E-06
32241 40 A/D 42 rs760365458 0.1268 None gnomAD-3.1.2 1.32E-05
32241 40 A/D 42 rs760365458 0.1268 None gnomAD-4.0.0 3.84391E-06
32242 41 C/Y 43 None 0.0720 None gnomAD-4.0.0 8.40225E-06
32243 42 K/N 44 None 0.3659 None gnomAD-4.0.0 2.40064E-06
32244 43 A/V 50 None 0.2899 None gnomAD-4.0.0 1.59117E-06
32245 44 G/S 54 rs1559120718 0.7315 None gnomAD-2.1.1 4.02E-06
32245 44 G/S 54 rs1559120718 0.7315 None gnomAD-4.0.0 1.59116E-06
32246 45 T/I 60 None 0.3897 None gnomAD-4.0.0 2.05258E-06
32246 45 T/K 60 rs1300990720 0.3897 None gnomAD-3.1.2 6.58E-06
32246 45 T/K 60 rs1300990720 0.3897 None gnomAD-4.0.0 6.58181E-06
32246 45 T/R 60 rs1300990720 0.3897 None gnomAD-2.1.1 4.02E-06
32246 45 T/R 60 rs1300990720 0.3897 None gnomAD-4.0.0 4.10516E-06
32247 46 E/K 63 None 1.0284 None gnomAD-4.0.0 3.18231E-06
32247 46 E/Q 63 rs1695477466 1.0284 None gnomAD-3.1.2 6.58E-06
32247 46 E/Q 63 rs1695477466 1.0284 None gnomAD-4.0.0 6.57557E-06
32248 47 R/S 64 None 0.8071 None gnomAD-4.0.0 1.20032E-06
32249 48 W/R 65 rs370515456 0.2502 None gnomAD-2.1.1 1.61E-05
32249 48 W/R 65 rs370515456 0.2502 None gnomAD-4.0.0 3.42097E-06
32250 49 M/I 66 rs866570041 0.5311 None gnomAD-3.1.2 1.32E-05
32250 49 M/I 66 rs866570041 0.5311 None gnomAD-4.0.0 1.31515E-05
32251 50 K/N 67 rs1327194086 0.4233 None gnomAD-2.1.1 8.03E-06
32251 50 K/N 67 rs1327194086 0.4233 None gnomAD-3.1.2 6.58E-06
32251 50 K/N 67 rs1327194086 0.4233 None gnomAD-4.0.0 2.56275E-06
32252 51 V/A 68 None 0.3436 None gnomAD-4.0.0 1.20032E-06
32252 51 V/F 68 rs766999420 0.3436 None gnomAD-2.1.1 8.03E-06
32252 51 V/F 68 rs766999420 0.3436 None gnomAD-4.0.0 4.77356E-06
32253 52 V/D 69 rs759070210 0.2217 None gnomAD-2.1.1 4.02E-06
32253 52 V/D 69 rs759070210 0.2217 None gnomAD-4.0.0 1.59119E-06
32253 52 V/I 69 None 0.2217 None gnomAD-4.0.0 1.20032E-06
32257 56 P/L 77 None 0.2758 None gnomAD-4.0.0 1.20032E-06
32257 56 P/S 77 rs564715146 0.2758 None gnomAD-2.1.1 4.02E-06
32257 56 P/S 77 rs564715146 0.2758 None gnomAD-3.1.2 6.58E-06
32257 56 P/S 77 rs564715146 0.2758 None 1000 genomes 1.99681E-04
32257 56 P/S 77 rs564715146 0.2758 None gnomAD-4.0.0 3.84336E-06
32260 59 L/V 89 rs1695466303 0.2531 None gnomAD-4.0.0 1.36841E-06
32261 60 E/G 90 rs1060500578 0.4947 None gnomAD-3.1.2 6.57E-06
32261 60 E/G 90 rs1060500578 0.4947 None gnomAD-4.0.0 4.05999E-06
32262 61 H/N 91 rs1376767409 0.3370 None gnomAD-2.1.1 4.02E-06
32262 61 H/N 91 rs1376767409 0.3370 None gnomAD-4.0.0 2.05265E-06
32262 61 H/Y 91 None 0.3370 None gnomAD-4.0.0 6.84217E-07
32263 62 T/I 92 rs762871001 0.3274 None gnomAD-2.1.1 8.03E-06
32263 62 T/I 92 rs762871001 0.3274 None gnomAD-4.0.0 1.36849E-06
32263 62 T/N 92 None 0.3274 None gnomAD-4.0.0 6.84244E-07
32263 62 T/S 92 rs762871001 0.3274 None gnomAD-2.1.1 4.02E-06
32263 62 T/S 92 rs762871001 0.3274 None gnomAD-4.0.0 6.84244E-07
32264 63 V/I 93 None 0.1763 None gnomAD-4.0.0 6.8424E-07
32266 65 S/F 96 rs773092840 0.7592 None gnomAD-2.1.1 4.02E-06
32266 65 S/F 96 rs773092840 0.7592 None gnomAD-4.0.0 1.59146E-06
32266 65 S/P 96 rs933521240 0.7592 None gnomAD-2.1.1 8.03E-06
32266 65 S/P 96 rs933521240 0.7592 None gnomAD-3.1.2 2.63E-05
32266 65 S/P 96 rs933521240 0.7592 None gnomAD-4.0.0 4.95865E-06
32267 66 L/S 97 None 0.1500 None gnomAD-4.0.0 1.20032E-06
32268 67 N/H 98 None 0.6242 None gnomAD-4.0.0 2.40067E-06
32268 67 N/S 98 rs769680688 0.6242 None gnomAD-2.1.1 2.01E-05
32268 67 N/S 98 rs769680688 0.6242 None gnomAD-4.0.0 2.53185E-05
32269 68 E/D 99 rs876658095 0.5467 None gnomAD-4.0.0 6.36663E-06
32269 68 E/G 99 None 0.5467 None gnomAD-4.0.0 1.59167E-06
32270 69 G/D 100 None 0.3875 None gnomAD-4.0.0 1.59171E-06
32271 70 E/G 102 rs1559120065 0.3252 None gnomAD-2.1.1 4.02E-06
32272 71 Q/H 103 None 0.4364 None gnomAD-4.0.0 1.59185E-06
32272 71 Q/R 103 None 0.4364 None gnomAD-4.0.0 1.20034E-06
32275 74 F/S 106 rs1559119971 0.1283 None gnomAD-2.1.1 4.02E-06
32275 74 F/S 106 rs1559119971 0.1283 None gnomAD-3.1.2 1.32E-05
32275 74 F/S 106 rs1559119971 0.1283 None gnomAD-4.0.0 1.42607E-05
32276 75 R/G 107 None 0.0956 None gnomAD-4.0.0 1.59311E-06
32276 75 R/T 107 None 0.0956 None gnomAD-4.0.0 6.84599E-07
32277 76 I/V 108 rs2154143314 0.0725 None gnomAD-4.0.0 7.96582E-06
32278 77 R/G 109 None 0.1504 None gnomAD-4.0.0 1.36931E-06
32278 77 R/S 109 rs558927011 0.1504 None gnomAD-2.1.1 4.02E-06
32278 77 R/S 109 rs558927011 0.1504 None gnomAD-4.0.0 6.84784E-07
32279 78 A/T 110 None 0.0783 None gnomAD-4.0.0 3.42415E-06
32281 80 N/D 112 None 0.0960 None gnomAD-4.0.0 1.59558E-06
32281 80 N/I 112 None 0.0960 None gnomAD-4.0.0 2.74021E-06
32281 80 N/S 112 rs1304722341 0.0960 None gnomAD-2.1.1 4.02E-06
32281 80 N/S 112 rs1304722341 0.0960 None gnomAD-4.0.0 6.85052E-07
32282 81 E/K 113 rs1446694825 0.7675 None gnomAD-2.1.1 4.02E-06
32282 81 E/K 113 rs1446694825 0.7675 None gnomAD-4.0.0 3.19332E-06
32284 83 G/D 115 rs988372305 0.2221 None gnomAD-2.1.1 3.21E-05
32284 83 G/D 115 rs988372305 0.2221 None gnomAD-3.1.2 6.59E-06
32284 83 G/D 115 rs988372305 0.2221 None gnomAD-4.0.0 6.59483E-06
32284 83 G/R 115 None 0.2221 None gnomAD-4.0.0 1.44039E-05
32284 83 G/S 115 None 0.2221 None gnomAD-4.0.0 2.40064E-06
32284 83 G/V 115 rs988372305 0.2221 None gnomAD-2.1.1 3.21E-05
32284 83 G/V 115 rs988372305 0.2221 None gnomAD-3.1.2 6.59E-06
32284 83 G/V 115 rs988372305 0.2221 None gnomAD-4.0.0 2.48374E-06
32285 84 V/A 117 rs878898914 0.4003 None gnomAD-2.1.1 3.22E-05
32285 84 V/A 117 rs878898914 0.4003 None gnomAD-3.1.2 1.99E-05
32285 84 V/M 117 rs747046501 0.4003 None gnomAD-2.1.1 1.61E-05
32285 84 V/M 117 rs747046501 0.4003 None gnomAD-3.1.2 6.6E-06
32285 84 V/M 117 rs747046501 0.4003 None gnomAD-4.0.0 5.14767E-06
32287 86 E/K 119 None 0.5525 None gnomAD-4.0.0 1.60118E-06
32288 87 P/A 120 None 0.2062 None gnomAD-4.0.0 4.11837E-06
32290 89 E/K 122 rs1060500512 0.2651 None gnomAD-4.0.0 1.37408E-06
32290 89 E/Q 122 None 0.2651 None gnomAD-4.0.0 6.87038E-07
32291 90 T/I 123 rs780461366 0.2259 None gnomAD-2.1.1 2.43E-05
32291 90 T/I 123 rs780461366 0.2259 None gnomAD-3.1.2 6.62E-06
32291 90 T/I 123 rs780461366 0.2259 None gnomAD-4.0.0 5.61178E-06
32291 90 T/S 123 rs1377452178 0.2259 None gnomAD-2.1.1 3.21E-05
32291 90 T/S 123 rs1377452178 0.2259 None gnomAD-3.1.2 1.98E-05
32291 90 T/S 123 rs1377452178 0.2259 None gnomAD-4.0.0 1.97597E-05
32292 91 V/I 124 rs746347387 1.0354 None gnomAD-2.1.1 1.22E-05
32292 91 V/I 124 rs746347387 1.0354 None gnomAD-3.1.2 6.64E-06
32292 91 V/I 124 rs746347387 1.0354 None gnomAD-4.0.0 2.74561E-05
32293 92 T/P 125 rs200555813 0.7117 None gnomAD-4.0.0 9.65802E-06
32294 93 A/T 126 rs751040519 0.2595 None gnomAD-2.1.1 4.09E-06
32294 93 A/T 126 rs751040519 0.2595 None gnomAD-3.1.2 1.99E-05
32294 93 A/T 126 rs751040519 0.2595 None gnomAD-4.0.0 1.99288E-05
32294 93 A/V 126 rs1184028880 0.2595 None gnomAD-3.1.2 1.32E-05
32294 93 A/V 126 rs1184028880 0.2595 None gnomAD-4.0.0 1.87651E-06
32295 94 V/M 127 rs199532781 0.2237 None gnomAD-2.1.1 7.67E-05
32295 94 V/M 127 rs199532781 0.2237 None gnomAD-3.1.2 7.96E-05
32295 94 V/M 127 rs199532781 0.2237 None gnomAD-4.0.0 7.0152E-05
32296 95 T/I 129 rs773279450 0.3210 None gnomAD-4.0.0 1.38575E-06
32297 96 V/A 130 None 0.0801 None gnomAD-4.0.0 1.6489E-06
32297 96 V/I 130 rs1161985671 0.0801 None gnomAD-2.1.1 3.25E-05
32297 96 V/I 130 rs1161985671 0.0801 None gnomAD-3.1.2 6.67E-06
32297 96 V/I 130 rs1161985671 0.0801 None gnomAD-4.0.0 1.88964E-06
32298 97 Q/E 131 rs201108270 0.5447 None gnomAD-2.1.1 4.2E-06
32298 97 Q/E 131 rs201108270 0.5447 None gnomAD-4.0.0 4.19836E-06
32298 97 Q/H 131 rs776724759 0.5447 None gnomAD-2.1.1 4.2E-06
32298 97 Q/H 131 rs776724759 0.5447 None gnomAD-4.0.0 1.65042E-06
32298 97 Q/R 131 None 0.5447 None gnomAD-4.0.0 1.64912E-06