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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
3239 1 P/L 1 None 0.2404 None gnomAD-4.0.0 1.59277E-06
3239 1 P/S 1 rs1394280644 0.2404 None gnomAD-2.1.1 4E-06
3239 1 P/S 1 rs1394280644 0.2404 None gnomAD-4.0.0 1.59279E-06
3241 3 V/L 3 rs777535305 0.2370 None gnomAD-2.1.1 4E-06
3241 3 V/L 3 rs777535305 0.2370 None gnomAD-3.1.2 1.31E-05
3241 3 V/L 3 rs777535305 0.2370 None gnomAD-4.0.0 3.84561E-06
3242 4 L/Q 4 rs2090060609 0.4528 None gnomAD-3.1.2 6.57E-06
3242 4 L/Q 4 rs2090060609 0.4528 None gnomAD-4.0.0 6.56927E-06
3243 5 Q/E 5 None 0.5550 None gnomAD-4.0.0 6.8438E-07
3243 5 Q/R 5 None 0.5550 None gnomAD-4.0.0 1.20032E-06
3245 7 L/F 8 rs752456528 0.1195 None gnomAD-4.0.0 3.18361E-06
3245 7 L/V 8 rs752456528 0.1195 None gnomAD-3.1.2 6.57E-06
3245 7 L/V 8 rs752456528 0.1195 None gnomAD-4.0.0 2.56272E-06
3246 8 Q/H 9 None 0.5209 None gnomAD-4.0.0 1.20032E-06
3246 8 Q/L 9 None 0.5209 None gnomAD-4.0.0 1.20032E-06
3246 8 Q/R 9 None 0.5209 None gnomAD-4.0.0 1.20032E-06
3247 9 P/L 11 None 0.5304 None gnomAD-4.0.0 1.20032E-06
3247 9 P/T 11 rs2090057344 0.5304 None gnomAD-4.0.0 1.59154E-06
3248 10 V/A 13 rs2090056123 0.1775 None gnomAD-4.0.0 1.59135E-06
3248 10 V/I 13 rs754873655 0.1775 None gnomAD-2.1.1 3.99E-06
3248 10 V/I 13 rs754873655 0.1775 None gnomAD-4.0.0 1.3685E-06
3249 11 T/A 14 rs2090055572 0.4926 None gnomAD-4.0.0 2.73689E-06
3250 12 V/G 16 rs55634230 0.1779 None gnomAD-2.1.1 7.18E-05
3250 12 V/G 16 rs55634230 0.1779 None gnomAD-3.1.2 5.26E-05
3250 12 V/G 16 rs55634230 0.1779 None 1000 genomes 3.99361E-04
3250 12 V/G 16 rs55634230 0.1779 None gnomAD-4.0.0 2.16864E-05
3250 12 V/L 16 None 0.1779 None gnomAD-4.0.0 1.20032E-06
3251 13 Q/L 18 None 0.7252 None gnomAD-4.0.0 1.36833E-06
3251 13 Q/R 18 None 0.7252 None gnomAD-4.0.0 6.84167E-07
3252 14 S/F 23 rs1436391849 0.3612 None gnomAD-2.1.1 1.99E-05
3252 14 S/F 23 rs1436391849 0.3612 None gnomAD-3.1.2 1.31E-05
3252 14 S/F 23 rs1436391849 0.3612 None gnomAD-4.0.0 1.28087E-05
3253 15 G/C 24 None 0.2260 None gnomAD-4.0.0 1.59099E-06
3254 16 K/E 25 None 0.6253 None gnomAD-4.0.0 1.59091E-06
3254 16 K/T 25 rs766499138 0.6253 None gnomAD-2.1.1 3.99E-06
3255 17 P/A 26 rs763012497 0.4640 None gnomAD-2.1.1 3.99E-06
3255 17 P/A 26 rs763012497 0.4640 None gnomAD-4.0.0 2.05242E-06
3255 17 P/R 26 rs2090051409 0.4640 None gnomAD-3.1.2 6.57E-06
3255 17 P/R 26 rs2090051409 0.4640 None gnomAD-4.0.0 2.56146E-06
3255 17 P/T 26 None 0.4640 None gnomAD-2.1.1 7.98E-06
3255 17 P/T 26 None 0.4640 None gnomAD-4.0.0 2.73657E-06
3256 18 A/T 28 rs1322989995 0.1489 None gnomAD-2.1.1 3.99E-06
3256 18 A/T 28 rs1322989995 0.1489 None gnomAD-4.0.0 1.59087E-06
3257 19 R/C 29 rs374521620 0.6612 None gnomAD-2.1.1 3.59E-05
3257 19 R/C 29 rs374521620 0.6612 None gnomAD-4.0.0 6.15723E-06
3257 19 R/G 29 None 0.6612 None gnomAD-4.0.0 6.84137E-07
3257 19 R/H 29 rs535876380 0.6612 None gnomAD-2.1.1 3.19E-05
3257 19 R/H 29 rs535876380 0.6612 None gnomAD-3.1.2 2.63E-05
3257 19 R/H 29 rs535876380 0.6612 None 1000 genomes 1.99681E-04
3257 19 R/H 29 rs535876380 0.6612 None gnomAD-4.0.0 7.06306E-05
3257 19 R/S 29 rs374521620 0.6612 None gnomAD-2.1.1 1.99E-05
3257 19 R/S 29 rs374521620 0.6612 None gnomAD-3.1.2 1.97E-05
3257 19 R/S 29 rs374521620 0.6612 None gnomAD-4.0.0 1.30125E-05
3258 20 F/I 30 None 0.1055 None gnomAD-4.0.0 1.59075E-06
3259 21 C/R 31 None 0.2474 None gnomAD-4.0.0 1.59077E-06
3259 21 C/S 31 rs1258913609 0.2474 None gnomAD-3.1.2 1.31E-05
3259 21 C/S 31 rs1258913609 0.2474 None gnomAD-4.0.0 1.31409E-05
3259 21 C/Y 31 rs794729585 0.2474 None gnomAD-3.1.2 6.57E-06
3259 21 C/Y 31 rs794729585 0.2474 None gnomAD-4.0.0 6.08966E-06
3260 22 A/P 33 None 0.1130 None gnomAD-4.0.0 1.5907E-06
3261 23 V/L 34 rs2291311 0.1952 None gnomAD-4.0.0 4.10457E-06
3261 23 V/M 34 rs2291311 0.1952 None gnomAD-2.1.1 8.44463E-01
3261 23 V/M 34 rs2291311 0.1952 None gnomAD-3.1.2 8.69609E-01
3261 23 V/M 34 rs2291311 0.1952 None 1000 genomes 8.04912E-01
3261 23 V/M 34 rs2291311 0.1952 None gnomAD-4.0.0 9.0011E-01
3262 24 I/L 35 None 0.1197 None gnomAD-4.0.0 4.80129E-06
3264 26 G/R 40 rs370190599 0.3009 None gnomAD-2.1.1 1.2E-05
3264 26 G/R 40 rs370190599 0.3009 None gnomAD-3.1.2 1.31E-05
3264 26 G/R 40 rs370190599 0.3009 None gnomAD-4.0.0 4.95692E-06
3265 27 R/K 41 None 0.9083 None gnomAD-4.0.0 1.20032E-06
3265 27 R/S 41 rs141708467 0.9083 None gnomAD-2.1.1 2.48E-05
3265 27 R/S 41 rs141708467 0.9083 None gnomAD-3.1.2 1.24888E-04
3265 27 R/S 41 rs141708467 0.9083 None gnomAD-4.0.0 2.54036E-05
3266 28 P/L 42 None 0.4945 None gnomAD-4.0.0 1.20032E-06
3266 28 P/S 42 rs2090043271 0.4945 None gnomAD-4.0.0 1.20032E-06
3267 29 Q/K 43 None 0.6873 None gnomAD-4.0.0 2.40064E-06
3268 30 P/S 44 rs912372716 0.1573 None gnomAD-2.1.1 1.2E-05
3268 30 P/S 44 rs912372716 0.1573 None gnomAD-3.1.2 1.31E-05
3268 30 P/S 44 rs912372716 0.1573 None gnomAD-4.0.0 4.39906E-05
3269 31 K/T 45 None 0.7530 None gnomAD-4.0.0 1.20032E-06
3270 32 I/M 46 rs1447409995 0.1942 None gnomAD-2.1.1 3.98E-06
3270 32 I/T 46 None 0.1942 None gnomAD-4.0.0 1.36815E-06
3271 33 S/A 47 rs556720151 0.1976 None gnomAD-2.1.1 3.54E-05
3271 33 S/A 47 rs556720151 0.1976 None gnomAD-3.1.2 1.11705E-04
3271 33 S/A 47 rs556720151 0.1976 None 1000 genomes 3.99361E-04
3271 33 S/A 47 rs556720151 0.1976 None gnomAD-4.0.0 1.73467E-05
3271 33 S/F 47 rs867536098 0.1976 None gnomAD-2.1.1 3.98E-06
3271 33 S/F 47 rs867536098 0.1976 None gnomAD-4.0.0 4.77164E-06
3271 33 S/P 47 rs556720151 0.1976 None gnomAD-2.1.1 3.98E-06
3271 33 S/Y 47 rs867536098 0.1976 None gnomAD-2.1.1 3.98E-06
3272 34 W/C 48 rs1296156744 0.1230 None gnomAD-2.1.1 3.19E-05
3272 34 W/C 48 rs1296156744 0.1230 None gnomAD-3.1.2 6.57E-06
3272 34 W/C 48 rs1296156744 0.1230 None gnomAD-4.0.0 6.57255E-06
3272 34 W/R 48 None 0.1230 None gnomAD-4.0.0 2.05222E-06
3273 35 Y/N 49 rs2090039389 0.2130 None gnomAD-3.1.2 6.57E-06
3273 35 Y/N 49 rs2090039389 0.2130 None gnomAD-4.0.0 6.57091E-06
3274 36 K/E 50 rs201696360 0.1830 None gnomAD-4.0.0 3.42035E-06
3274 36 K/Q 50 rs201696360 0.1830 None gnomAD-2.1.1 2.48E-05
3274 36 K/Q 50 rs201696360 0.1830 None gnomAD-3.1.2 1.31E-05
3274 36 K/Q 50 rs201696360 0.1830 None gnomAD-4.0.0 6.19573E-06
3276 38 E/G 52 rs377049518 0.8105 None gnomAD-2.1.1 1.77E-05
3276 38 E/G 52 rs377049518 0.8105 None gnomAD-3.1.2 3.29E-05
3276 38 E/G 52 rs377049518 0.8105 None gnomAD-4.0.0 8.85982E-05
3276 38 E/K 52 rs929694215 0.8105 None gnomAD-4.0.0 3.18103E-06
3277 39 Q/E 55 None 0.7137 None gnomAD-4.0.0 1.20032E-06
3279 41 L/V 58 None 0.2105 None gnomAD-4.0.0 1.20032E-06
3280 42 S/C 59 None 0.6240 None gnomAD-4.0.0 6.84067E-07
3280 42 S/F 59 rs747768723 0.6240 None gnomAD-2.1.1 7.08E-06
3280 42 S/F 59 rs747768723 0.6240 None gnomAD-3.1.2 6.57E-06
3280 42 S/F 59 rs747768723 0.6240 None gnomAD-4.0.0 1.85869E-06
3280 42 S/P 59 None 0.6240 None gnomAD-4.0.0 1.59049E-06
3280 42 S/Y 59 rs747768723 0.6240 None gnomAD-2.1.1 3.98E-06
3280 42 S/Y 59 rs747768723 0.6240 None gnomAD-4.0.0 4.1044E-06
3281 43 T/A 70 None 0.5467 None gnomAD-4.0.0 2.40064E-06
3283 45 F/L 102 rs780860026 0.8596 None gnomAD-2.1.1 3.98E-06
3283 45 F/L 102 rs780860026 0.8596 None gnomAD-4.0.0 4.78852E-06
3284 46 K/R 115 rs147903846 0.2524 None gnomAD-2.1.1 5.67E-05
3284 46 K/R 115 rs147903846 0.2524 None gnomAD-3.1.2 5.26E-05
3284 46 K/R 115 rs147903846 0.2524 None gnomAD-4.0.0 9.04528E-05
3285 47 C/W 121 None 0.1929 None gnomAD-4.0.0 6.84071E-07
3286 48 K/I 122 rs200052398 0.3433 None gnomAD-2.1.1 3.98E-06
3286 48 K/I 122 rs200052398 0.3433 None gnomAD-4.0.0 6.84073E-07
3286 48 K/N 122 rs2090032788 0.3433 None gnomAD-3.1.2 6.58E-06
3286 48 K/N 122 rs2090032788 0.3433 None gnomAD-4.0.0 2.56155E-06
3286 48 K/R 122 rs200052398 0.3433 None gnomAD-2.1.1 9.91E-05
3286 48 K/R 122 rs200052398 0.3433 None gnomAD-3.1.2 1.64391E-04
3286 48 K/R 122 rs200052398 0.3433 None 1000 genomes 3.99361E-04
3286 48 K/R 122 rs200052398 0.3433 None gnomAD-4.0.0 2.40393E-04
3286 48 K/T 122 None 0.3433 None gnomAD-2.1.1 3.98E-06
3286 48 K/T 122 None 0.3433 None gnomAD-4.0.0 4.78851E-06
3287 49 F/C 123 None 0.3115 None gnomAD-4.0.0 1.59051E-06
3288 50 L/V 125 rs1461236000 0.5233 None gnomAD-2.1.1 3.98E-06
3288 50 L/V 125 rs1461236000 0.5233 None gnomAD-4.0.0 1.59051E-06
3289 51 H/L 127 None 0.8173 None gnomAD-4.0.0 6.8407E-07
3289 51 H/R 127 rs758526828 0.8173 None gnomAD-2.1.1 7.97E-06
3289 51 H/R 127 rs758526828 0.8173 None gnomAD-4.0.0 5.47256E-06
3290 52 D/E 130 rs727503680 0.8964 None gnomAD-4.0.0 6.84073E-06
3290 52 D/G 130 rs2090030791 0.8964 None gnomAD-4.0.0 1.59052E-06
3290 52 D/H 130 rs750489067 0.8964 None gnomAD-2.1.1 2.39E-05
3290 52 D/H 130 rs750489067 0.8964 None gnomAD-3.1.2 6.57E-06
3290 52 D/H 130 rs750489067 0.8964 None gnomAD-4.0.0 3.71752E-05
3290 52 D/Y 130 rs750489067 0.8964 None gnomAD-2.1.1 3.98E-06
3290 52 D/Y 130 rs750489067 0.8964 None gnomAD-3.1.2 6.57E-06
3290 52 D/Y 130 rs750489067 0.8964 None gnomAD-4.0.0 1.23917E-06
3292 54 Q/K 134 None 0.4485 None gnomAD-4.0.0 1.59053E-06
3292 54 Q/R 134 rs794729586 0.4485 None gnomAD-2.1.1 3.98E-06
3292 54 Q/R 134 rs794729586 0.4485 None gnomAD-4.0.0 4.77161E-06
3293 55 E/D 135 rs4894043 0.4343 None gnomAD-4.0.0 6.84068E-07
3293 55 E/Q 135 rs2090028411 0.4343 None gnomAD-4.0.0 2.73628E-06
3294 56 Y/C 136 None 0.1981 None gnomAD-4.0.0 2.40066E-06
3295 57 T/A 137 rs145053177 0.1558 None gnomAD-2.1.1 2.12E-05
3295 57 T/A 137 rs145053177 0.1558 None gnomAD-3.1.2 2.63E-05
3295 57 T/A 137 rs145053177 0.1558 None gnomAD-4.0.0 4.95672E-06
3295 57 T/M 137 rs191708454 0.1558 None gnomAD-2.1.1 2.54923E-04
3295 57 T/M 137 rs191708454 0.1558 None gnomAD-3.1.2 7.23E-05
3295 57 T/M 137 rs191708454 0.1558 None 1000 genomes 3.99361E-04
3295 57 T/M 137 rs191708454 0.1558 None gnomAD-4.0.0 1.08423E-04
3295 57 T/P 137 rs145053177 0.1558 None gnomAD-4.0.0 6.84071E-07
3296 58 L/F 138 rs1449589213 0.0763 None gnomAD-2.1.1 3.98E-06
3296 58 L/F 138 rs1449589213 0.0763 None gnomAD-4.0.0 3.18099E-06
3299 61 I/T 141 rs2090024625 0.4793 None gnomAD-4.0.0 2.05222E-06
3300 62 E/A 143 rs1359178318 0.4721 None gnomAD-2.1.1 7.08E-06
3300 62 E/A 143 rs1359178318 0.4721 None gnomAD-3.1.2 6.57E-06
3300 62 E/A 143 rs1359178318 0.4721 None gnomAD-4.0.0 6.19579E-06
3300 62 E/Q 143 None 0.4721 None gnomAD-4.0.0 1.20033E-06
3301 63 A/D 144 rs776187090 0.0949 None gnomAD-2.1.1 7.97E-06
3301 63 A/D 144 rs776187090 0.0949 None gnomAD-4.0.0 2.73632E-06
3301 63 A/T 144 rs1317267651 0.0949 None gnomAD-2.1.1 7.97E-06
3301 63 A/T 144 rs1317267651 0.0949 None gnomAD-4.0.0 3.18107E-06
3301 63 A/V 144 None 0.0949 None gnomAD-4.0.0 6.8408E-07
3302 64 F/L 145 rs1382593583 0.2983 None gnomAD-2.1.1 3.98E-06
3303 65 P/L 146 rs201379132 0.5003 None gnomAD-2.1.1 1.09754E-04
3303 65 P/L 146 rs201379132 0.5003 None gnomAD-3.1.2 4.6E-05
3303 65 P/L 146 rs201379132 0.5003 None gnomAD-4.0.0 6.13382E-05
3305 67 D/G 149 None 0.1462 None gnomAD-4.0.0 2.40065E-06
3305 67 D/H 149 None 0.1462 None gnomAD-4.0.0 6.84078E-07
3305 67 D/N 149 rs746334195 0.1462 None gnomAD-2.1.1 3.98E-06
3305 67 D/N 149 rs746334195 0.1462 None gnomAD-4.0.0 6.84078E-07
3305 67 D/Y 149 rs746334195 0.1462 None gnomAD-2.1.1 3.98E-06
3305 67 D/Y 149 rs746334195 0.1462 None gnomAD-4.0.0 6.84078E-07
3306 68 A/P 151 None 0.2720 None gnomAD-4.0.0 1.20032E-06
3306 68 A/V 151 rs879006488 0.2720 None gnomAD-2.1.1 1.06E-05
3306 68 A/V 151 rs879006488 0.2720 None gnomAD-3.1.2 4.6E-05
3306 68 A/V 151 rs879006488 0.2720 None gnomAD-4.0.0 9.9136E-06
3309 71 Y/H 154 rs2090020782 0.1123 None gnomAD-3.1.2 6.57E-06
3309 71 Y/H 154 rs2090020782 0.1123 None gnomAD-4.0.0 6.56961E-06
3310 72 T/I 155 rs1433903188 0.2160 None gnomAD-3.1.2 6.57E-06
3310 72 T/I 155 rs1433903188 0.2160 None gnomAD-4.0.0 4.337E-06
3310 72 T/N 155 None 0.2160 None gnomAD-3.1.2 1.31E-05
3310 72 T/N 155 None 0.2160 None gnomAD-4.0.0 4.337E-06
3310 72 T/S 155 rs1433903188 0.2160 None gnomAD-2.1.1 3.18E-05
3310 72 T/S 155 rs1433903188 0.2160 None gnomAD-3.1.2 1.31E-05
3310 72 T/S 155 rs1433903188 0.2160 None gnomAD-4.0.0 1.31413E-05
3314 76 K/Q 159 rs769286646 0.5276 None gnomAD-2.1.1 3.99E-06
3314 76 K/Q 159 rs769286646 0.5276 None gnomAD-4.0.0 1.59054E-06
3316 78 D/A 162 rs780889180 0.7898 None gnomAD-3.1.2 6.57E-06
3316 78 D/A 162 rs780889180 0.7898 None gnomAD-4.0.0 6.56927E-06
3316 78 D/G 162 rs780889180 0.7898 None gnomAD-2.1.1 3.99E-06
3316 78 D/G 162 rs780889180 0.7898 None gnomAD-4.0.0 1.20032E-06
3316 78 D/N 162 None 0.7898 None gnomAD-4.0.0 1.59056E-06
3317 79 Y/C 163 rs768476150 0.8923 None gnomAD-2.1.1 1.99E-05
3317 79 Y/C 163 rs768476150 0.8923 None gnomAD-3.1.2 1.31E-05
3317 79 Y/C 163 rs768476150 0.8923 None gnomAD-4.0.0 1.28053E-05
3319 81 V/I 165 rs375533809 0.4201 None gnomAD-2.1.1 5.32E-05
3319 81 V/I 165 rs375533809 0.4201 None gnomAD-3.1.2 8.54E-05
3319 81 V/I 165 rs375533809 0.4201 None gnomAD-4.0.0 5.01858E-05
3320 82 A/T 166 rs144100066 0.2033 None gnomAD-2.1.1 2.13E-05
3320 82 A/T 166 rs144100066 0.2033 None gnomAD-3.1.2 1.31E-05
3320 82 A/T 166 rs144100066 0.2033 None gnomAD-4.0.0 5.57619E-06
3320 82 A/V 166 None 0.2033 None gnomAD-4.0.0 3.60097E-06
3322 84 T/A 169 rs750311932 0.1634 None gnomAD-2.1.1 3.99E-06
3322 84 T/A 169 rs750311932 0.1634 None gnomAD-4.0.0 1.59057E-06
3323 85 S/A 171 rs2090015166 0.3665 None gnomAD-4.0.0 1.36816E-06
3324 86 A/P 172 None 0.1016 None gnomAD-4.0.0 6.84085E-07
3324 86 A/S 172 None 0.1016 None gnomAD-4.0.0 2.05226E-06
3324 86 A/T 172 None 0.1016 None gnomAD-4.0.0 2.05226E-06
3326 88 L/F 174 None 0.1027 None gnomAD-4.0.0 1.59064E-06
3327 89 S/L 175 rs1561162422 0.3614 None gnomAD-2.1.1 3.99E-06
3327 89 S/L 175 rs1561162422 0.3614 None gnomAD-4.0.0 1.59069E-06
3328 90 V/A 177 rs1060500412 0.1844 None gnomAD-2.1.1 7.99E-06
3328 90 V/A 177 rs1060500412 0.1844 None gnomAD-3.1.2 1.31E-05
3328 90 V/A 177 rs1060500412 0.1844 None gnomAD-4.0.0 1.549E-05
3328 90 V/L 177 None 0.1844 None gnomAD-4.0.0 3.60097E-06