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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
5261 1 A/S 1 None 0.1343 None gnomAD-4.0.0 6.86129E-07
5261 1 A/T 1 rs1460264002 0.1343 None gnomAD-2.1.1 7.2E-06
5261 1 A/T 1 rs1460264002 0.1343 None gnomAD-3.1.2 1.97E-05
5261 1 A/T 1 rs1460264002 0.1343 None gnomAD-4.0.0 3.72759E-06
5262 2 K/I 2 None 0.7080 None gnomAD-4.0.0 1.37188E-06
5262 2 K/R 2 rs761927504 0.7080 None gnomAD-2.1.1 4.05E-06
5262 2 K/R 2 rs761927504 0.7080 None gnomAD-4.0.0 6.85938E-07
5263 3 I/L 3 rs1166030692 0.1743 None gnomAD-2.1.1 4.05E-06
5263 3 I/L 3 rs1166030692 0.1743 None gnomAD-4.0.0 1.60066E-06
5263 3 I/N 3 rs776892266 0.1743 None gnomAD-2.1.1 7.9E-05
5263 3 I/N 3 rs776892266 0.1743 None gnomAD-3.1.2 3.29E-05
5263 3 I/N 3 rs776892266 0.1743 None gnomAD-4.0.0 6.04903E-05
5264 4 I/L 4 None 0.4906 None gnomAD-4.0.0 1.59992E-06
5264 4 I/T 4 rs768858900 0.4906 None gnomAD-2.1.1 8.1E-06
5264 4 I/T 4 rs768858900 0.4906 None gnomAD-3.1.2 6.57E-06
5264 4 I/T 4 rs768858900 0.4906 None gnomAD-4.0.0 5.58835E-06
5264 4 I/V 4 None 0.4906 None gnomAD-4.0.0 1.59992E-06
5265 5 E/K 5 rs1370636944 0.4943 None gnomAD-2.1.1 3.18E-05
5265 5 E/K 5 rs1370636944 0.4943 None gnomAD-3.1.2 6.57E-06
5265 5 E/K 5 rs1370636944 0.4943 None gnomAD-4.0.0 4.34592E-06
5266 6 R/L 7 None 0.7701 None gnomAD-4.0.0 3.42685E-06
5266 6 R/Q 7 rs749816144 0.7701 None gnomAD-2.1.1 1.21E-05
5266 6 R/Q 7 rs749816144 0.7701 None gnomAD-4.0.0 1.3022E-05
5268 8 E/Q 9 None 1.0317 None gnomAD-4.0.0 3.42576E-06
5269 9 L/P 11 None 0.8970 None gnomAD-4.0.0 7.53545E-06
5271 11 Q/R 14 rs1578198392 0.7741 None gnomAD-4.0.0 1.20036E-06
5272 12 V/M 16 rs746406893 0.2065 None gnomAD-2.1.1 2.86E-05
5272 12 V/M 16 rs746406893 0.2065 None gnomAD-3.1.2 7.88E-05
5272 12 V/M 16 rs746406893 0.2065 None gnomAD-4.0.0 1.92121E-05
5275 15 G/E 24 None 0.3974 None gnomAD-4.0.0 6.84271E-07
5275 15 G/R 24 rs1019067272 0.3974 None gnomAD-3.1.2 6.57E-06
5275 15 G/R 24 rs1019067272 0.3974 None gnomAD-4.0.0 3.09865E-06
5276 16 D/N 25 rs769246267 0.4248 None gnomAD-2.1.1 7.15E-06
5276 16 D/N 25 rs769246267 0.4248 None gnomAD-3.1.2 6.57E-06
5276 16 D/N 25 rs769246267 0.4248 None gnomAD-4.0.0 2.47888E-06
5277 17 P/T 26 None 0.6252 None gnomAD-4.0.0 1.20036E-06
5278 18 A/T 28 rs754692422 0.1874 None gnomAD-2.1.1 4.03E-05
5278 18 A/T 28 rs754692422 0.1874 None gnomAD-3.1.2 1.97E-05
5278 18 A/T 28 rs754692422 0.1874 None gnomAD-4.0.0 1.73522E-05
5279 19 T/A 29 rs559795262 0.3712 None gnomAD-2.1.1 7.15E-06
5279 19 T/A 29 rs559795262 0.3712 None gnomAD-3.1.2 1.31E-05
5279 19 T/A 29 rs559795262 0.3712 None 1000 genomes 1.99681E-04
5279 19 T/A 29 rs559795262 0.3712 None gnomAD-4.0.0 3.04438E-06
5280 20 L/V 30 rs879207679 0.2419 None gnomAD-4.0.0 1.59133E-06
5282 22 Y/C 33 rs1253364524 0.1189 None gnomAD-3.1.2 2.63E-05
5282 22 Y/C 33 rs1253364524 0.1189 None gnomAD-4.0.0 6.40494E-06
5282 22 Y/D 33 rs1438275064 0.1189 None gnomAD-2.1.1 4.02E-06
5282 22 Y/D 33 rs1438275064 0.1189 None gnomAD-3.1.2 6.58E-06
5282 22 Y/D 33 rs1438275064 0.1189 None gnomAD-4.0.0 2.56281E-06
5283 23 T/R 34 None 0.1870 None gnomAD-4.0.0 1.20032E-06
5284 24 V/A 35 rs1327029023 0.1345 None gnomAD-2.1.1 4.02E-06
5284 24 V/A 35 rs1327029023 0.1345 None gnomAD-4.0.0 1.59121E-06
5284 24 V/G 35 rs1327029023 0.1345 None gnomAD-2.1.1 4.02E-06
5284 24 V/G 35 rs1327029023 0.1345 None gnomAD-4.0.0 1.59121E-06
5284 24 V/M 35 rs66839174 0.1345 None gnomAD-2.1.1 1.15733E-03
5284 24 V/M 35 rs66839174 0.1345 None gnomAD-3.1.2 3.63452E-03
5284 24 V/M 35 rs66839174 0.1345 None 1000 genomes 3.59425E-03
5284 24 V/M 35 rs66839174 0.1345 None gnomAD-4.0.0 6.51248E-04
5286 26 G/S 40 rs1409273228 0.2840 None gnomAD-3.1.2 6.57E-06
5286 26 G/S 40 rs1409273228 0.2840 None gnomAD-4.0.0 5.57709E-06
5287 27 T/M 41 rs148551876 0.4447 None gnomAD-2.1.1 3.14355E-04
5287 27 T/M 41 rs148551876 0.4447 None gnomAD-3.1.2 7.10069E-04
5287 27 T/M 41 rs148551876 0.4447 None 1000 genomes 9.98403E-04
5287 27 T/M 41 rs148551876 0.4447 None gnomAD-4.0.0 1.62353E-04
5288 28 P/L 42 None 0.4522 None gnomAD-4.0.0 1.36842E-06
5292 32 P/L 46 rs1394563400 0.3254 None gnomAD-2.1.1 4.02E-06
5292 32 P/L 46 rs1394563400 0.3254 None gnomAD-4.0.0 5.47363E-06
5292 32 P/S 46 None 0.3254 None gnomAD-4.0.0 6.84208E-07
5292 32 P/T 46 None 0.3254 None gnomAD-4.0.0 6.84208E-07
5293 33 K/Q 47 rs930814645 0.5156 None gnomAD-2.1.1 3.19E-05
5293 33 K/Q 47 rs930814645 0.5156 None gnomAD-3.1.2 6.57E-06
5293 33 K/Q 47 rs930814645 0.5156 None gnomAD-4.0.0 2.56208E-06
5293 33 K/R 47 rs761945485 0.5156 None gnomAD-2.1.1 8.04E-06
5293 33 K/R 47 rs761945485 0.5156 None gnomAD-4.0.0 6.36491E-06
5293 33 K/T 47 None 0.5156 None gnomAD-4.0.0 1.59122E-06
5294 34 W/L 48 None 0.1555 None gnomAD-4.0.0 6.36511E-06
5295 35 Y/C 49 rs753916999 0.2133 None gnomAD-2.1.1 8.04E-06
5295 35 Y/C 49 rs753916999 0.2133 None gnomAD-4.0.0 1.59125E-06
5297 37 D/Y 51 rs2080895374 0.5125 None gnomAD-3.1.2 6.57E-06
5297 37 D/Y 51 rs2080895374 0.5125 None gnomAD-4.0.0 2.56232E-06
5298 38 G/E 52 rs1395880212 0.4471 None gnomAD-2.1.1 8.04E-06
5298 38 G/E 52 rs1395880212 0.4471 None gnomAD-4.0.0 3.42103E-06
5299 39 R/T 55 rs563456537 0.7720 None gnomAD-2.1.1 1.04578E-04
5299 39 R/T 55 rs563456537 0.7720 None gnomAD-3.1.2 5.92E-05
5299 39 R/T 55 rs563456537 0.7720 None 1000 genomes 7.98722E-04
5299 39 R/T 55 rs563456537 0.7720 None gnomAD-4.0.0 5.94866E-05
5300 40 P/H 56 rs1248409979 0.5214 None gnomAD-4.0.0 1.59127E-06
5300 40 P/S 56 rs1436998315 0.5214 None gnomAD-4.0.0 6.8421E-07
5300 40 P/T 56 None 0.5214 None gnomAD-4.0.0 1.36842E-06
5302 42 V/D 59 None 0.7687 None gnomAD-4.0.0 1.20032E-06
5302 42 V/I 59 rs1410470675 0.7687 None gnomAD-3.1.2 6.57E-06
5302 42 V/I 59 rs1410470675 0.7687 None gnomAD-4.0.0 2.5624E-06
5303 43 A/S 70 rs72648934 0.4108 None gnomAD-2.1.1 4.02E-06
5303 43 A/S 70 rs72648934 0.4108 None gnomAD-3.1.2 6.57E-06
5303 43 A/S 70 rs72648934 0.4108 None gnomAD-4.0.0 4.33804E-06
5303 43 A/T 70 rs72648934 0.4108 None gnomAD-2.1.1 3.22E-05
5303 43 A/T 70 rs72648934 0.4108 None gnomAD-3.1.2 1.97E-05
5303 43 A/T 70 rs72648934 0.4108 None 1000 genomes 1.99681E-04
5303 43 A/T 70 rs72648934 0.4108 None gnomAD-4.0.0 1.98296E-05
5304 44 S/G 73 None 0.2286 None gnomAD-4.0.0 1.20032E-06
5304 44 S/N 73 rs1560825296 0.2286 None gnomAD-2.1.1 4.02E-06
5304 44 S/N 73 rs1560825296 0.2286 None gnomAD-4.0.0 1.36843E-06
5304 44 S/T 73 None 0.2286 None gnomAD-4.0.0 6.84214E-07
5307 47 Y/D 121 rs1349650603 0.2235 None gnomAD-2.1.1 4.02E-06
5307 47 Y/D 121 rs1349650603 0.2235 None gnomAD-4.0.0 1.59123E-06
5308 48 R/Q 122 rs146847928 0.7104 None gnomAD-2.1.1 5.71E-05
5308 48 R/Q 122 rs146847928 0.7104 None gnomAD-3.1.2 4.6E-05
5308 48 R/Q 122 rs146847928 0.7104 None 1000 genomes 3.99361E-04
5308 48 R/Q 122 rs146847928 0.7104 None gnomAD-4.0.0 4.15185E-05
5309 49 I/K 123 rs780870014 0.2546 None gnomAD-2.1.1 4.02E-06
5309 49 I/K 123 rs780870014 0.2546 None gnomAD-4.0.0 1.59128E-06
5309 49 I/M 123 None 0.2546 None gnomAD-4.0.0 1.20032E-06
5309 49 I/R 123 None 0.2546 None gnomAD-4.0.0 1.59128E-06
5309 49 I/V 123 rs749755802 0.2546 None gnomAD-3.1.2 1.31E-05
5309 49 I/V 123 rs749755802 0.2546 None gnomAD-4.0.0 1.31449E-05
5311 51 F/L 127 rs768239529 0.3768 None gnomAD-2.1.1 4.02E-06
5311 51 F/L 127 rs768239529 0.3768 None gnomAD-4.0.0 3.18258E-06
5313 53 N/S 131 None 0.7390 None gnomAD-4.0.0 1.20032E-06
5313 53 N/Y 131 rs2080887582 0.7390 None gnomAD-3.1.2 6.57E-06
5313 53 N/Y 131 rs2080887582 0.7390 None gnomAD-4.0.0 2.56226E-06
5314 54 N/D 134 rs371044267 0.4291 None gnomAD-2.1.1 1.28718E-04
5314 54 N/D 134 rs371044267 0.4291 None gnomAD-3.1.2 1.97E-05
5314 54 N/D 134 rs371044267 0.4291 None gnomAD-4.0.0 4.35539E-05
5314 54 N/S 134 None 0.4291 None gnomAD-4.0.0 3.42106E-06
5315 55 V/I 135 None 0.2458 None gnomAD-4.0.0 1.20032E-06
5316 56 A/V 136 rs879242937 0.0756 None gnomAD-2.1.1 1.21E-05
5316 56 A/V 136 rs879242937 0.0756 None gnomAD-3.1.2 3.29E-05
5316 56 A/V 136 rs879242937 0.0756 None gnomAD-4.0.0 2.78862E-05
5317 57 Q/E 137 rs1210762968 0.4197 None gnomAD-4.0.0 4.10532E-06
5317 57 Q/P 137 rs1230882379 0.4197 None gnomAD-4.0.0 3.18257E-06
5318 58 L/F 138 rs1312777672 0.0965 None gnomAD-2.1.1 3.19E-05
5318 58 L/F 138 rs1312777672 0.0965 None gnomAD-3.1.2 1.31E-05
5318 58 L/F 138 rs1312777672 0.0965 None gnomAD-4.0.0 3.84337E-06
5318 58 L/I 138 rs1312777672 0.0965 None gnomAD-2.1.1 3.19E-05
5318 58 L/I 138 rs1312777672 0.0965 None gnomAD-3.1.2 6.57E-06
5318 58 L/I 138 rs1312777672 0.0965 None gnomAD-4.0.0 6.57082E-06
5318 58 L/R 138 None 0.0965 None gnomAD-4.0.0 6.84218E-07
5319 59 K/E 139 None 0.4777 None gnomAD-4.0.0 1.59131E-06
5319 59 K/R 139 rs779733584 0.4777 None gnomAD-3.1.2 6.57E-06
5319 59 K/R 139 rs779733584 0.4777 None gnomAD-4.0.0 1.85907E-06
5319 59 K/T 139 rs779733584 0.4777 None gnomAD-2.1.1 1.21E-05
5319 59 K/T 139 rs779733584 0.4777 None gnomAD-4.0.0 2.05266E-06
5321 61 Y/C 141 None 0.7241 None gnomAD-4.0.0 1.59131E-06
5322 62 S/L 143 rs758182029 0.4615 None gnomAD-2.1.1 8.05E-06
5322 62 S/L 143 rs758182029 0.4615 None gnomAD-3.1.2 1.97E-05
5322 62 S/L 143 rs758182029 0.4615 None gnomAD-4.0.0 2.35488E-05
5323 63 A/G 144 None 0.1635 None gnomAD-4.0.0 1.59137E-06
5323 63 A/T 144 rs745667963 0.1635 None gnomAD-2.1.1 8.05E-06
5323 63 A/T 144 rs745667963 0.1635 None gnomAD-3.1.2 1.31E-05
5323 63 A/T 144 rs745667963 0.1635 None gnomAD-4.0.0 3.84332E-06
5324 64 E/A 145 None 0.3685 None gnomAD-4.0.0 4.78955E-06
5326 66 H/D 148 None 0.4915 None gnomAD-4.0.0 1.20032E-06
5327 67 D/E 149 rs1278975928 0.1672 None gnomAD-2.1.1 4.03E-06
5327 67 D/E 149 rs1278975928 0.1672 None gnomAD-4.0.0 4.10546E-06
5327 67 D/H 149 None 0.1672 None gnomAD-4.0.0 1.36849E-06
5327 67 D/N 149 rs868056944 0.1672 None gnomAD-2.1.1 7.15E-06
5327 67 D/N 149 rs868056944 0.1672 None gnomAD-3.1.2 1.97E-05
5327 67 D/N 149 rs868056944 0.1672 None gnomAD-4.0.0 1.05352E-05
5329 69 G/C 152 rs1370617731 0.2274 None gnomAD-4.0.0 1.36858E-06
5329 69 G/D 152 rs202234492 0.2274 None gnomAD-2.1.1 3.97294E-04
5329 69 G/D 152 rs202234492 0.2274 None gnomAD-3.1.2 3.02254E-04
5329 69 G/D 152 rs202234492 0.2274 None gnomAD-4.0.0 3.77446E-04
5331 71 Y/C 154 rs369924189 0.1517 None gnomAD-3.1.2 6.57E-06
5331 71 Y/C 154 rs369924189 0.1517 None gnomAD-4.0.0 2.56281E-06
5332 72 T/I 155 rs1232516805 0.2060 None gnomAD-4.0.0 4.10644E-06
5337 77 N/S 161 rs752924679 0.1389 None gnomAD-2.1.1 6.47E-05
5337 77 N/S 161 rs752924679 0.1389 None gnomAD-3.1.2 3.94E-05
5337 77 N/S 161 rs752924679 0.1389 None gnomAD-4.0.0 7.2581E-05
5339 79 V/L 163 rs2080875658 0.3714 None gnomAD-4.0.0 1.20032E-06
5340 80 G/D 164 rs2080874147 0.2204 None gnomAD-4.0.0 2.74285E-06
5340 80 G/S 164 rs759610759 0.2204 None gnomAD-2.1.1 4.07E-06
5340 80 G/S 164 rs759610759 0.2204 None gnomAD-4.0.0 1.37117E-06
5342 82 S/G 166 None 0.2433 None gnomAD-4.0.0 6.86201E-07
5343 83 S/C 168 rs369132752 0.5258 None gnomAD-2.1.1 4.11E-06
5343 83 S/C 168 rs369132752 0.5258 None gnomAD-4.0.0 6.8702E-07
5343 83 S/F 168 rs369132752 0.5258 None gnomAD-2.1.1 2.88E-05
5343 83 S/F 168 rs369132752 0.5258 None gnomAD-3.1.2 2.63E-05
5343 83 S/F 168 rs369132752 0.5258 None 1000 genomes 1.99681E-04
5343 83 S/F 168 rs369132752 0.5258 None gnomAD-4.0.0 8.70708E-06
5343 83 S/P 168 None 0.5258 None gnomAD-4.0.0 3.21087E-06
5344 84 C/R 169 None 0.3170 None gnomAD-4.0.0 2.40064E-06
5344 84 C/Y 169 None 0.3170 None gnomAD-4.0.0 1.60987E-06
5345 85 E/D 171 rs1298041878 0.5183 None gnomAD-2.1.1 3.18E-05
5346 86 T/I 172 rs1010676727 0.3073 None gnomAD-2.1.1 4.17E-06
5346 86 T/I 172 rs1010676727 0.3073 None gnomAD-3.1.2 1.97E-05
5346 86 T/I 172 rs1010676727 0.3073 None gnomAD-4.0.0 1.93318E-05
5347 87 T/A 173 None 0.5112 None gnomAD-4.0.0 8.40225E-06
5348 88 F/C 174 rs766802878 0.2213 None gnomAD-2.1.1 4.23E-06
5348 88 F/C 174 rs766802878 0.2213 None gnomAD-4.0.0 3.24993E-06
5349 89 T/A 175 rs2080869632 0.4880 None gnomAD-3.1.2 6.57E-06
5349 89 T/A 175 rs2080869632 0.4880 None gnomAD-4.0.0 1.25084E-06
5349 89 T/I 175 None 0.4880 None gnomAD-4.0.0 1.63129E-06
5349 89 T/S 175 None 0.4880 None gnomAD-4.0.0 6.91229E-07
5350 90 V/I 176 rs2080869284 0.2660 None gnomAD-3.1.2 6.57E-06
5350 90 V/I 176 rs2080869284 0.2660 None gnomAD-4.0.0 2.62072E-06