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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
1291 1 S/L 1 rs192742099 0.2910 None gnomAD-2.1.1 4E-06
1291 1 S/L 1 rs192742099 0.2910 None gnomAD-3.1.2 6.57E-06
1291 1 S/L 1 rs192742099 0.2910 None 1000 genomes 1.99681E-04
1291 1 S/L 1 rs192742099 0.2910 None gnomAD-4.0.0 6.56927E-06
1292 2 G/V 2 None 0.2231 None gnomAD-4.0.0 1.20083E-06
1293 3 F/C 3 rs747818002 0.1947 None gnomAD-4.0.0 1.3687E-06
1293 3 F/S 3 rs747818002 0.1947 None gnomAD-2.1.1 4E-06
1293 3 F/S 3 rs747818002 0.1947 None gnomAD-3.1.2 6.57E-06
1293 3 F/S 3 rs747818002 0.1947 None gnomAD-4.0.0 3.71891E-06
1293 3 F/Y 3 None 0.1947 None gnomAD-3.1.2 6.57E-06
1293 3 F/Y 3 None 0.1947 None gnomAD-4.0.0 6.57307E-06
1294 4 D/A 4 rs1233143011 0.5126 None gnomAD-2.1.1 1.2E-05
1294 4 D/A 4 rs1233143011 0.5126 None gnomAD-4.0.0 3.42155E-06
1294 4 D/H 4 None 0.5126 None gnomAD-4.0.0 6.84313E-07
1295 5 S/L 5 rs1552280 0.3331 None gnomAD-2.1.1 9.60146E-01
1295 5 S/L 5 rs1552280 0.3331 None gnomAD-3.1.2 9.47703E-01
1295 5 S/L 5 rs1552280 0.3331 None 1000 genomes 9.20128E-01
1295 5 S/L 5 rs1552280 0.3331 None gnomAD-4.0.0 9.77851E-01
1296 6 R/G 7 rs754853658 0.6702 None gnomAD-2.1.1 4E-06
1296 6 R/G 7 rs754853658 0.6702 None gnomAD-4.0.0 6.84262E-07
1296 6 R/K 7 rs2092554276 0.6702 None gnomAD-4.0.0 3.6017E-06
1298 8 K/E 9 None 0.6798 None gnomAD-4.0.0 1.20051E-06
1299 9 N/S 11 rs1219843676 0.6062 None gnomAD-2.1.1 4E-06
1299 9 N/S 11 rs1219843676 0.6062 None gnomAD-4.0.0 1.59118E-06
1299 9 N/Y 11 rs1304157069 0.6062 None gnomAD-4.0.0 1.20051E-06
1300 10 Y/C 13 rs188090472 0.3136 None gnomAD-2.1.1 2E-05
1300 10 Y/C 13 rs188090472 0.3136 None gnomAD-3.1.2 2.63E-05
1300 10 Y/C 13 rs188090472 0.3136 None 1000 genomes 1.99681E-04
1300 10 Y/C 13 rs188090472 0.3136 None gnomAD-4.0.0 1.79729E-05
1300 10 Y/H 13 rs1574706508 0.3136 None gnomAD-4.0.0 1.36849E-06
1300 10 Y/N 13 None 0.3136 None gnomAD-4.0.0 6.84244E-07
1301 11 R/G 14 None 0.4917 None gnomAD-4.0.0 1.59113E-06
1301 11 R/K 14 None 0.4917 None gnomAD-4.0.0 1.20069E-06
1303 13 L/I 18 None 0.6964 None gnomAD-4.0.0 1.36846E-06
1303 13 L/P 18 rs1407839718 0.6964 None gnomAD-2.1.1 4E-06
1303 13 L/P 18 rs1407839718 0.6964 None gnomAD-4.0.0 1.36846E-06
1305 15 G/A 24 rs1357320718 0.3561 None gnomAD-2.1.1 4E-06
1305 15 G/A 24 rs1357320718 0.3561 None gnomAD-4.0.0 1.59106E-06
1305 15 G/E 24 None 0.3561 None gnomAD-4.0.0 1.59106E-06
1305 15 G/R 24 rs199889888 0.3561 None gnomAD-2.1.1 5.2E-05
1305 15 G/R 24 rs199889888 0.3561 None gnomAD-3.1.2 1.31E-05
1305 15 G/R 24 rs199889888 0.3561 None gnomAD-4.0.0 2.41677E-05
1305 15 G/W 24 rs199889888 0.3561 None gnomAD-2.1.1 6.04E-05
1305 15 G/W 24 rs199889888 0.3561 None gnomAD-3.1.2 1.97E-05
1305 15 G/W 24 rs199889888 0.3561 None gnomAD-4.0.0 4.02795E-05
1306 16 M/I 25 rs2092551024 0.4111 None gnomAD-4.0.0 1.20045E-06
1306 16 M/K 25 rs1410771859 0.4111 None gnomAD-2.1.1 4E-06
1306 16 M/K 25 rs1410771859 0.4111 None gnomAD-4.0.0 1.59108E-06
1306 16 M/L 25 rs1480447156 0.4111 None gnomAD-2.1.1 4E-06
1306 16 M/L 25 rs1480447156 0.4111 None gnomAD-4.0.0 1.59106E-06
1307 17 G/D 26 rs776940545 0.3320 None gnomAD-2.1.1 8E-06
1307 17 G/D 26 rs776940545 0.3320 None gnomAD-4.0.0 4.10529E-06
1307 17 G/V 26 None 0.3320 None gnomAD-4.0.0 6.84215E-07
1308 18 V/A 28 None 0.1350 None gnomAD-4.0.0 1.20043E-06
1309 19 T/I 29 None 0.3337 None gnomAD-4.0.0 1.3684E-06
1309 19 T/N 29 rs878985727 0.3337 None gnomAD-4.0.0 6.84202E-07
1309 19 T/P 29 None 0.3337 None gnomAD-4.0.0 1.32047E-05
1311 21 H/P 31 None 0.5471 None gnomAD-4.0.0 6.84211E-07
1311 21 H/R 31 None 0.5471 None gnomAD-4.0.0 1.36842E-06
1312 22 C/Y 33 None 0.1226 None gnomAD-4.0.0 2.40083E-06
1313 23 K/E 34 None 0.2637 None gnomAD-4.0.0 6.84211E-07
1313 23 K/N 34 None 0.2637 None gnomAD-4.0.0 6.84239E-07
1313 23 K/Q 34 None 0.2637 None gnomAD-4.0.0 6.84211E-07
1314 24 M/I 35 rs761039819 0.1077 None gnomAD-2.1.1 4E-06
1314 24 M/I 35 rs761039819 0.1077 None gnomAD-3.1.2 6.57E-06
1314 24 M/I 35 rs761039819 0.1077 None gnomAD-4.0.0 4.06013E-06
1314 24 M/V 35 rs764249439 0.1077 None gnomAD-2.1.1 2.13E-05
1314 24 M/V 35 rs764249439 0.1077 None gnomAD-3.1.2 1.05132E-04
1314 24 M/V 35 rs764249439 0.1077 None gnomAD-4.0.0 1.73515E-05
1316 26 G/R 40 None 0.3320 None gnomAD-4.0.0 9.60327E-06
1317 27 Y/C 41 rs775768014 0.9029 None gnomAD-4.0.0 1.36852E-06
1318 28 P/A 42 None 0.3513 None gnomAD-4.0.0 6.84307E-07
1318 28 P/S 42 rs879048673 0.3513 None gnomAD-3.1.2 6.57E-06
1318 28 P/S 42 rs879048673 0.3513 None gnomAD-4.0.0 6.57358E-06
1319 29 L/I 43 rs376633286 0.3449 None gnomAD-2.1.1 1.6E-05
1319 29 L/I 43 rs376633286 0.3449 None gnomAD-3.1.2 3.94E-05
1319 29 L/I 43 rs376633286 0.3449 None 1000 genomes 5.99042E-04
1319 29 L/I 43 rs376633286 0.3449 None gnomAD-4.0.0 8.96689E-06
1320 30 P/S 44 None 0.1290 None gnomAD-4.0.0 2.05301E-06
1321 31 K/E 45 rs1204400340 0.7974 None gnomAD-2.1.1 4.01E-06
1321 31 K/E 45 rs1204400340 0.7974 None gnomAD-4.0.0 2.40103E-06
1322 32 I/L 46 None 0.2149 None gnomAD-4.0.0 1.20032E-06
1323 33 A/S 47 rs555618887 0.1392 None gnomAD-2.1.1 5.6E-05
1323 33 A/S 47 rs555618887 0.1392 None gnomAD-3.1.2 1.31E-05
1323 33 A/S 47 rs555618887 0.1392 None 1000 genomes 1.99681E-04
1323 33 A/S 47 rs555618887 0.1392 None gnomAD-4.0.0 2.97443E-05
1323 33 A/T 47 rs555618887 0.1392 None gnomAD-2.1.1 1.6E-05
1323 33 A/T 47 rs555618887 0.1392 None gnomAD-4.0.0 2.737E-06
1323 33 A/V 47 rs774954394 0.1392 None gnomAD-2.1.1 4E-06
1323 33 A/V 47 rs774954394 0.1392 None gnomAD-4.0.0 1.59154E-06
1326 36 K/E 50 rs2092529339 0.1138 None gnomAD-3.1.2 6.57E-06
1326 36 K/E 50 rs2092529339 0.1138 None gnomAD-4.0.0 2.02974E-06
1327 37 D/H 51 None 0.4807 None gnomAD-4.0.0 1.59125E-06
1327 37 D/N 51 rs1317990922 0.4807 None gnomAD-2.1.1 4E-06
1327 37 D/N 51 rs1317990922 0.4807 None gnomAD-3.1.2 1.31E-05
1327 37 D/N 51 rs1317990922 0.4807 None gnomAD-4.0.0 3.84313E-06
1328 38 G/D 52 None 0.4740 None gnomAD-4.0.0 6.84208E-07
1330 40 R/C 56 rs771294359 0.4368 None gnomAD-2.1.1 1.32039E-04
1330 40 R/C 56 rs771294359 0.4368 None gnomAD-3.1.2 1.97E-05
1330 40 R/C 56 rs771294359 0.4368 None gnomAD-4.0.0 4.21362E-05
1330 40 R/H 56 rs761402128 0.4368 None gnomAD-2.1.1 4.4E-05
1330 40 R/H 56 rs761402128 0.4368 None gnomAD-3.1.2 1.97E-05
1330 40 R/H 56 rs761402128 0.4368 None gnomAD-4.0.0 4.09007E-05
1330 40 R/L 56 None 0.4368 None gnomAD-4.0.0 6.84231E-07
1331 41 I/T 58 rs2092527820 0.1302 None gnomAD-4.0.0 1.20032E-06
1333 43 H/P 70 rs768478889 0.6078 None gnomAD-2.1.1 4E-06
1333 43 H/P 70 rs768478889 0.6078 None gnomAD-4.0.0 1.36835E-06
1333 43 H/R 70 rs768478889 0.6078 None gnomAD-2.1.1 1.2E-05
1333 43 H/R 70 rs768478889 0.6078 None gnomAD-4.0.0 2.7367E-06
1334 44 G/R 73 rs977217136 0.2741 None gnomAD-3.1.2 6.57E-06
1334 44 G/R 73 rs977217136 0.2741 None gnomAD-4.0.0 2.5619E-06
1336 46 R/S 115 rs1449428038 0.3592 None gnomAD-2.1.1 4E-06
1336 46 R/S 115 rs1449428038 0.3592 None gnomAD-4.0.0 1.20033E-06
1337 47 Y/H 121 None 0.2148 None gnomAD-4.0.0 1.20033E-06
1339 49 M/I 123 rs1561323191 0.1957 None gnomAD-4.0.0 1.20032E-06
1340 50 D/G 125 rs780035210 0.6515 None gnomAD-2.1.1 1.6E-05
1340 50 D/G 125 rs780035210 0.6515 None gnomAD-3.1.2 6.57E-06
1340 50 D/G 125 rs780035210 0.6515 None gnomAD-4.0.0 1.05336E-05
1342 52 L/P 128 rs1561323110 0.3397 None gnomAD-2.1.1 3.99E-06
1342 52 L/P 128 rs1561323110 0.3397 None gnomAD-4.0.0 1.36828E-06
1343 53 Q/R 130 None 0.9906 None gnomAD-4.0.0 1.20032E-06
1344 54 D/E 131 rs1244864946 0.3932 None gnomAD-3.1.2 6.57E-06
1344 54 D/E 131 rs1244864946 0.3932 None gnomAD-4.0.0 3.09801E-06
1344 54 D/G 131 rs1203373476 0.3932 None gnomAD-3.1.2 6.57E-06
1344 54 D/G 131 rs1203373476 0.3932 None gnomAD-4.0.0 3.09803E-06
1344 54 D/V 131 None 0.3932 None gnomAD-4.0.0 6.84137E-07
1345 55 G/D 134 rs36021856 0.1215 None gnomAD-2.1.1 1.12591E-02
1345 55 G/D 134 rs36021856 0.1215 None gnomAD-3.1.2 1.01921E-02
1345 55 G/D 134 rs36021856 0.1215 None 1000 genomes 3.79393E-03
1345 55 G/D 134 rs36021856 0.1215 None gnomAD-4.0.0 8.28819E-03
1348 58 S/G 137 rs397517591 0.2584 None gnomAD-2.1.1 2.39E-05
1348 58 S/G 137 rs397517591 0.2584 None gnomAD-3.1.2 1.31E-05
1348 58 S/G 137 rs397517591 0.2584 None gnomAD-4.0.0 1.5368E-05
1348 58 S/T 137 None 0.2584 None gnomAD-4.0.0 1.59085E-06
1350 60 R/C 139 rs550101167 0.3593 None gnomAD-2.1.1 2E-05
1350 60 R/C 139 rs550101167 0.3593 None gnomAD-3.1.2 1.97E-05
1350 60 R/C 139 rs550101167 0.3593 None 1000 genomes 1.99681E-04
1350 60 R/C 139 rs550101167 0.3593 None gnomAD-4.0.0 9.29395E-06
1350 60 R/H 139 rs539470256 0.3593 None gnomAD-2.1.1 1.20597E-04
1350 60 R/H 139 rs539470256 0.3593 None gnomAD-3.1.2 7.89E-05
1350 60 R/H 139 rs539470256 0.3593 None 1000 genomes 1.99681E-04
1350 60 R/H 139 rs539470256 0.3593 None gnomAD-4.0.0 6.56751E-05
1352 62 P/L 141 rs756380712 0.3026 None gnomAD-2.1.1 3.99E-06
1352 62 P/L 141 rs756380712 0.3026 None gnomAD-4.0.0 1.59079E-06
1352 62 P/S 141 None 0.3026 None gnomAD-4.0.0 6.84116E-07
1352 62 P/T 141 None 0.3026 None gnomAD-4.0.0 2.05235E-06
1353 63 V/L 143 rs36062108 0.5145 None gnomAD-2.1.1 3.99E-06
1353 63 V/L 143 rs36062108 0.5145 None gnomAD-3.1.2 6.62E-06
1353 63 V/L 143 rs36062108 0.5145 None gnomAD-4.0.0 2.7281E-05
1354 64 V/A 144 None 0.1253 None gnomAD-4.0.0 1.59079E-06
1354 64 V/F 144 None 0.1253 None gnomAD-4.0.0 2.40064E-06
1354 64 V/I 144 rs752889135 0.1253 None gnomAD-2.1.1 3.99E-06
1355 65 L/I 145 rs1561322407 0.4100 None gnomAD-2.1.1 3.99E-06
1355 65 L/I 145 rs1561322407 0.4100 None gnomAD-4.0.0 4.78882E-06
1357 67 E/G 148 None 0.5760 None gnomAD-4.0.0 1.59078E-06
1358 68 D/Y 149 rs373988162 0.1354 None gnomAD-2.1.1 3.99E-06
1358 68 D/Y 149 rs373988162 0.1354 None gnomAD-3.1.2 1.98E-05
1358 68 D/Y 149 rs373988162 0.1354 None gnomAD-4.0.0 1.61177E-05
1359 69 E/G 151 rs370978752 0.2476 None gnomAD-2.1.1 5.32E-05
1359 69 E/G 151 rs370978752 0.2476 None gnomAD-3.1.2 6.6E-06
1359 69 E/G 151 rs370978752 0.2476 None gnomAD-4.0.0 4.21509E-05
1361 71 I/L 153 rs145308734 0.5438 None gnomAD-2.1.1 6.38E-05
1361 71 I/L 153 rs145308734 0.5438 None gnomAD-3.1.2 5.92E-05
1361 71 I/L 153 rs145308734 0.5438 None gnomAD-4.0.0 1.93325E-04
1361 71 I/V 153 rs145308734 0.5438 None gnomAD-2.1.1 3.99E-06
1361 71 I/V 153 rs145308734 0.5438 None gnomAD-4.0.0 1.36824E-06
1363 73 T/A 155 rs768249663 0.1914 None gnomAD-2.1.1 2.13E-05
1363 73 T/A 155 rs768249663 0.1914 None gnomAD-3.1.2 3.94E-05
1363 73 T/A 155 rs768249663 0.1914 None gnomAD-4.0.0 7.2494E-05
1364 74 A/T 156 rs1171035485 0.0791 None gnomAD-2.1.1 1.99E-05
1364 74 A/T 156 rs1171035485 0.0791 None gnomAD-3.1.2 1.97E-05
1364 74 A/T 156 rs1171035485 0.0791 None gnomAD-4.0.0 1.40886E-05
1366 76 A/T 158 rs2092516827 0.0723 None gnomAD-3.1.2 6.57E-06
1366 76 A/T 158 rs2092516827 0.0723 None gnomAD-4.0.0 6.57272E-06
1367 77 S/N 159 rs1015028448 0.2396 None gnomAD-4.0.0 2.05239E-06
1367 77 S/R 159 rs1307238681 0.2396 None gnomAD-3.1.2 6.57E-06
1367 77 S/R 159 rs1307238681 0.2396 None gnomAD-4.0.0 9.29453E-06
1368 78 N/H 161 rs1377114122 0.1735 None gnomAD-2.1.1 3.99E-06
1368 78 N/H 161 rs1377114122 0.1735 None gnomAD-4.0.0 3.18159E-06
1368 78 N/S 161 rs771563848 0.1735 None gnomAD-2.1.1 3.99E-06
1368 78 N/S 161 rs771563848 0.1735 None gnomAD-3.1.2 6.57E-06
1368 78 N/S 161 rs771563848 0.1735 None gnomAD-4.0.0 3.84216E-06
1368 78 N/T 161 rs771563848 0.1735 None gnomAD-2.1.1 3.99E-06
1368 78 N/T 161 rs771563848 0.1735 None gnomAD-4.0.0 1.5908E-06
1370 80 K/E 163 rs1453568535 0.8950 None gnomAD-2.1.1 7.98E-06
1370 80 K/E 163 rs1453568535 0.8950 None gnomAD-4.0.0 3.18169E-06
1372 82 N/H 165 rs745676502 0.5883 None gnomAD-2.1.1 3.99E-06
1372 82 N/H 165 rs745676502 0.5883 None gnomAD-4.0.0 3.18168E-06
1373 83 A/T 166 rs867802403 0.1402 None gnomAD-3.1.2 1.31E-05
1373 83 A/T 166 rs867802403 0.1402 None gnomAD-4.0.0 1.31411E-05
1373 83 A/V 166 rs139294675 0.1402 None gnomAD-2.1.1 1.2E-05
1373 83 A/V 166 rs139294675 0.1402 None gnomAD-3.1.2 6.57E-06
1373 83 A/V 166 rs139294675 0.1402 None gnomAD-4.0.0 1.61102E-05
1374 84 I/L 168 rs770961696 0.5354 None gnomAD-2.1.1 3.99E-06
1374 84 I/L 168 rs770961696 0.5354 None gnomAD-4.0.0 1.59085E-06
1374 84 I/V 168 rs770961696 0.5354 None gnomAD-2.1.1 1.6E-05
1374 84 I/V 168 rs770961696 0.5354 None gnomAD-3.1.2 6.57E-06
1374 84 I/V 168 rs770961696 0.5354 None gnomAD-4.0.0 3.84185E-06
1376 86 S/P 171 rs1060500425 0.4025 None gnomAD-2.1.1 3.99E-06
1376 86 S/P 171 rs1060500425 0.4025 None gnomAD-4.0.0 1.59086E-06
1377 87 G/R 172 rs749203945 0.1722 None gnomAD-2.1.1 3.99E-06
1377 87 G/R 172 rs749203945 0.1722 None gnomAD-4.0.0 1.59089E-06
1378 88 K/E 173 None 0.1416 None gnomAD-4.0.0 1.59089E-06
1379 89 L/V 174 rs1204391475 0.0839 None gnomAD-3.1.2 6.57E-06
1379 89 L/V 174 rs1204391475 0.0839 None gnomAD-4.0.0 3.84239E-06
1380 90 Y/C 175 None 0.4157 None gnomAD-4.0.0 2.40065E-06
1381 91 V/A 177 rs794729252 0.2241 None gnomAD-2.1.1 3.99E-06
1381 91 V/A 177 rs794729252 0.2241 None gnomAD-3.1.2 6.57E-06
1381 91 V/A 177 rs794729252 0.2241 None gnomAD-4.0.0 3.09806E-06
1381 91 V/L 177 None 0.2241 None gnomAD-4.0.0 6.84146E-07
1381 91 V/M 177 rs1003675872 0.2241 None gnomAD-2.1.1 3.99E-06
1381 91 V/M 177 rs1003675872 0.2241 None gnomAD-4.0.0 3.42073E-06