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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
14319 1 I/T 1 None 0.7145 None gnomAD-4.0.0 1.36924E-06
14320 2 K/E 2 rs6723526 0.7652 None gnomAD-2.1.1 8.16223E-02
14320 2 K/E 2 rs6723526 0.7652 None gnomAD-3.1.2 7.22893E-02
14320 2 K/E 2 rs6723526 0.7652 None 1000 genomes 5.09185E-02
14320 2 K/E 2 rs6723526 0.7652 None gnomAD-4.0.0 9.75801E-02
14320 2 K/T 2 None 0.7652 None gnomAD-4.0.0 1.5934E-06
14322 4 E/G 4 None 0.3666 None gnomAD-4.0.0 6.84563E-07
14322 4 E/K 4 rs760193032 0.3666 None gnomAD-2.1.1 8.06E-06
14322 4 E/K 4 rs760193032 0.3666 None gnomAD-4.0.0 4.10739E-06
14322 4 E/Q 4 rs760193032 0.3666 None gnomAD-3.1.2 6.58E-06
14322 4 E/Q 4 rs760193032 0.3666 None gnomAD-4.0.0 6.57652E-06
14323 5 K/E 5 None 0.3125 None gnomAD-4.0.0 1.20032E-06
14323 5 K/N 5 None 0.3125 None gnomAD-4.0.0 1.59326E-06
14324 6 P/T 7 None 0.3276 None gnomAD-4.0.0 1.20032E-06
14325 7 L/P 8 rs979749249 0.1162 None gnomAD-2.1.1 4.03E-06
14326 8 Y/C 9 rs1161910175 0.6549 None gnomAD-3.1.2 6.58E-06
14326 8 Y/C 9 rs1161910175 0.6549 None gnomAD-4.0.0 2.03011E-06
14326 8 Y/H 9 None 0.6549 None gnomAD-4.0.0 1.20032E-06
14327 9 G/R 11 rs375403946 0.4294 None gnomAD-2.1.1 4.29E-05
14327 9 G/R 11 rs375403946 0.4294 None gnomAD-3.1.2 1.97E-05
14327 9 G/R 11 rs375403946 0.4294 None gnomAD-4.0.0 3.53355E-05
14328 10 V/A 13 None 0.1966 None gnomAD-4.0.0 3.18451E-06
14328 10 V/G 13 rs2060028786 0.1966 None gnomAD-3.1.2 6.58E-06
14328 10 V/G 13 rs2060028786 0.1966 None gnomAD-4.0.0 6.57938E-06
14330 12 V/M 16 rs2060028411 0.1506 None gnomAD-3.1.2 6.57E-06
14330 12 V/M 16 rs2060028411 0.1506 None gnomAD-4.0.0 6.57445E-06
14332 14 V/A 23 rs1286707659 0.3930 None gnomAD-3.1.2 6.58E-06
14332 14 V/A 23 rs1286707659 0.3930 None gnomAD-4.0.0 2.03007E-06
14333 15 G/R 24 None 0.2868 None gnomAD-4.0.0 6.84402E-07
14333 15 G/S 24 rs773910732 0.2868 None gnomAD-2.1.1 8.05E-06
14333 15 G/S 24 rs773910732 0.2868 None gnomAD-4.0.0 2.05321E-06
14334 16 E/D 25 rs794729237 0.3359 None gnomAD-4.0.0 3.42194E-06
14334 16 E/Q 25 rs776325338 0.3359 None gnomAD-2.1.1 2.14E-05
14334 16 E/Q 25 rs776325338 0.3359 None gnomAD-3.1.2 1.32E-05
14334 16 E/Q 25 rs776325338 0.3359 None gnomAD-4.0.0 3.4713E-05
14335 17 T/I 26 None 0.2468 None gnomAD-4.0.0 3.18456E-06
14336 18 A/T 28 rs2060026775 0.1211 None gnomAD-4.0.0 6.36914E-06
14336 18 A/V 28 rs749230107 0.1211 None gnomAD-2.1.1 2.01E-05
14336 18 A/V 28 rs749230107 0.1211 None gnomAD-4.0.0 1.75153E-05
14338 20 F/S 30 rs1277244282 0.1378 None gnomAD-2.1.1 4.03E-06
14338 20 F/S 30 rs1277244282 0.1378 None gnomAD-4.0.0 1.59231E-06
14339 21 E/D 31 rs1353557766 0.3301 None gnomAD-3.1.2 6.57E-06
14339 21 E/D 31 rs1353557766 0.3301 None gnomAD-4.0.0 6.57393E-06
14340 22 I/T 33 rs397517571 0.0766 None gnomAD-2.1.1 1.21E-05
14340 22 I/T 33 rs397517571 0.0766 None gnomAD-3.1.2 4.6E-05
14340 22 I/T 33 rs397517571 0.0766 None gnomAD-4.0.0 1.36363E-05
14341 23 E/G 34 rs1307501867 0.2236 None gnomAD-4.0.0 1.20032E-06
14342 24 L/P 35 rs1055213360 0.1598 None gnomAD-2.1.1 8.06E-06
14342 24 L/P 35 rs1055213360 0.1598 None gnomAD-4.0.0 1.09508E-05
14345 27 P/L 42 None 0.3799 None gnomAD-4.0.0 1.36889E-06
14345 27 P/R 42 rs1228136995 0.3799 None gnomAD-2.1.1 3.19E-05
14345 27 P/R 42 rs1228136995 0.3799 None gnomAD-3.1.2 6.58E-06
14345 27 P/R 42 rs1228136995 0.3799 None gnomAD-4.0.0 1.23984E-06
14345 27 P/S 42 rs1576701632 0.3799 None gnomAD-3.1.2 6.58E-06
14345 27 P/S 42 rs1576701632 0.3799 None gnomAD-4.0.0 6.57583E-06
14346 28 D/H 43 None 0.7934 None gnomAD-4.0.0 3.60097E-06
14346 28 D/N 43 None 0.7934 None gnomAD-4.0.0 9.6026E-06
14347 29 V/A 44 rs747933690 0.3834 None gnomAD-2.1.1 8.06E-06
14347 29 V/A 44 rs747933690 0.3834 None gnomAD-3.1.2 6.57E-06
14347 29 V/A 44 rs747933690 0.3834 None gnomAD-4.0.0 2.47967E-06
14347 29 V/I 44 rs1009268757 0.3834 None gnomAD-2.1.1 3.19E-05
14347 29 V/I 44 rs1009268757 0.3834 None gnomAD-3.1.2 6.58E-06
14347 29 V/I 44 rs1009268757 0.3834 None gnomAD-4.0.0 2.03006E-06
14349 31 G/D 46 rs1211758299 0.3210 None gnomAD-3.1.2 6.57E-06
14349 31 G/D 46 rs1211758299 0.3210 None gnomAD-4.0.0 6.57445E-06
14349 31 G/S 46 rs781452930 0.3210 None gnomAD-2.1.1 3.22E-05
14349 31 G/S 46 rs781452930 0.3210 None gnomAD-3.1.2 3.29E-05
14349 31 G/S 46 rs781452930 0.3210 None gnomAD-4.0.0 3.16172E-05
14351 33 W/C 48 rs755308403 0.1412 None gnomAD-2.1.1 4.03E-06
14351 33 W/C 48 rs755308403 0.1412 None gnomAD-4.0.0 1.36907E-06
14351 33 W/G 48 rs794729430 0.1412 None gnomAD-4.0.0 1.59299E-06
14351 33 W/R 48 rs794729430 0.1412 None gnomAD-2.1.1 4.03E-06
14351 33 W/R 48 rs794729430 0.1412 None gnomAD-4.0.0 1.59299E-06
14351 33 W/S 48 None 0.1412 None gnomAD-4.0.0 6.84543E-07
14352 34 K/Q 49 rs561547028 0.2867 None gnomAD-2.1.1 8.07E-06
14352 34 K/Q 49 rs561547028 0.2867 None 1000 genomes 3.99361E-04
14352 34 K/Q 49 rs561547028 0.2867 None gnomAD-4.0.0 2.47975E-06
14355 37 G/E 52 None 0.4107 None gnomAD-4.0.0 1.20033E-06
14357 39 P/A 56 rs750958593 0.5171 None gnomAD-3.1.2 6.58E-06
14357 39 P/A 56 rs750958593 0.5171 None gnomAD-4.0.0 3.10034E-06
14357 39 P/S 56 rs750958593 0.5171 None gnomAD-2.1.1 4.04E-06
14357 39 P/S 56 rs750958593 0.5171 None gnomAD-4.0.0 1.36926E-06
14357 39 P/T 56 None 0.5171 None gnomAD-2.1.1 3.19E-05
14357 39 P/T 56 None 0.5171 None gnomAD-3.1.2 6.58E-06
14357 39 P/T 56 None 0.5171 None gnomAD-4.0.0 6.57549E-06
14358 40 L/F 58 rs1200127540 0.2880 None gnomAD-2.1.1 4.04E-06
14358 40 L/F 58 rs1200127540 0.2880 None gnomAD-4.0.0 1.59387E-06
14359 41 T/A 59 rs1472230536 0.7689 None gnomAD-2.1.1 4.04E-06
14359 41 T/A 59 rs1472230536 0.7689 None gnomAD-4.0.0 9.5637E-06
14359 41 T/I 59 rs779102939 0.7689 None gnomAD-2.1.1 1.21E-05
14359 41 T/I 59 rs779102939 0.7689 None gnomAD-3.1.2 6.57E-06
14359 41 T/I 59 rs779102939 0.7689 None gnomAD-4.0.0 1.17837E-05
14359 41 T/R 59 None 0.7689 None gnomAD-4.0.0 1.36958E-06
14360 42 A/D 70 None 0.5416 None gnomAD-2.1.1 4.05E-06
14360 42 A/D 70 None 0.5416 None gnomAD-3.1.2 1.97E-05
14360 42 A/D 70 None 0.5416 None gnomAD-4.0.0 4.3449E-06
14360 42 A/V 70 rs928035274 0.5416 None gnomAD-2.1.1 6.37E-05
14360 42 A/V 70 rs928035274 0.5416 None gnomAD-3.1.2 2.63E-05
14360 42 A/V 70 rs928035274 0.5416 None gnomAD-4.0.0 3.1035E-06
14361 43 S/C 73 None 0.2961 None gnomAD-4.0.0 6.8571E-07
14361 43 S/Y 73 None 0.2961 None gnomAD-4.0.0 1.37142E-06
14362 44 P/L 111 None 0.7728 None gnomAD-4.0.0 1.59968E-06
14363 45 D/N 115 rs745979661 0.5824 None gnomAD-2.1.1 4.04E-06
14363 45 D/N 115 rs745979661 0.5824 None gnomAD-4.0.0 1.5943E-06
14363 45 D/Y 115 rs745979661 0.5824 None gnomAD-2.1.1 4.04E-06
14363 45 D/Y 115 rs745979661 0.5824 None gnomAD-4.0.0 1.5943E-06
14364 46 C/G 121 rs1454558974 0.1409 None gnomAD-2.1.1 3.19E-05
14364 46 C/G 121 rs1454558974 0.1409 None gnomAD-3.1.2 6.57E-06
14364 46 C/G 121 rs1454558974 0.1409 None gnomAD-4.0.0 6.57367E-06
14364 46 C/R 121 None 0.1409 None gnomAD-4.0.0 1.20032E-06
14364 46 C/Y 121 rs1462387608 0.1409 None gnomAD-2.1.1 4.04E-06
14364 46 C/Y 121 rs1462387608 0.1409 None gnomAD-4.0.0 1.59364E-06
14365 47 E/K 122 rs1302907540 0.4681 None gnomAD-4.0.0 9.60257E-06
14366 48 I/V 123 None 0.2957 None gnomAD-4.0.0 1.20032E-06
14367 49 I/T 125 rs397517572 0.3903 None gnomAD-2.1.1 2.42E-05
14367 49 I/T 125 rs397517572 0.3903 None gnomAD-3.1.2 1.32E-05
14367 49 I/T 125 rs397517572 0.3903 None 1000 genomes 1.99681E-04
14367 49 I/T 125 rs397517572 0.3903 None gnomAD-4.0.0 3.78193E-05
14367 49 I/V 125 rs1243151462 0.3903 None gnomAD-2.1.1 4.04E-06
14367 49 I/V 125 rs1243151462 0.3903 None gnomAD-4.0.0 5.47657E-06
14370 52 G/E 131 rs1463898788 0.3357 None gnomAD-2.1.1 4.04E-06
14370 52 G/E 131 rs1463898788 0.3357 None gnomAD-4.0.0 4.79192E-06
14370 52 G/R 131 None 0.3357 None gnomAD-4.0.0 1.3691E-06
14371 53 K/M 134 rs757765087 0.1640 None gnomAD-2.1.1 4.03E-06
14371 53 K/M 134 rs757765087 0.1640 None gnomAD-4.0.0 1.59299E-06
14372 54 K/Q 135 rs1240174591 0.3001 None gnomAD-2.1.1 4.04E-06
14372 54 K/Q 135 rs1240174591 0.3001 None gnomAD-4.0.0 2.73814E-06
14373 55 H/N 136 rs1216345717 0.1260 None gnomAD-3.1.2 6.58E-06
14373 55 H/N 136 rs1216345717 0.1260 None gnomAD-4.0.0 6.57557E-06
14374 56 I/V 137 rs754227553 0.2698 None gnomAD-2.1.1 2.42E-05
14374 56 I/V 137 rs754227553 0.2698 None gnomAD-3.1.2 1.97E-05
14374 56 I/V 137 rs754227553 0.2698 None gnomAD-4.0.0 2.72783E-05
14376 58 I/M 139 rs1559959762 0.1746 None gnomAD-2.1.1 4.03E-06
14376 58 I/M 139 rs1559959762 0.1746 None gnomAD-4.0.0 3.18555E-06
14376 58 I/V 139 rs181000791 0.1746 None gnomAD-2.1.1 4.03E-06
14376 58 I/V 139 rs181000791 0.1746 None gnomAD-3.1.2 1.31E-05
14376 58 I/V 139 rs181000791 0.1746 None 1000 genomes 1.99681E-04
14376 58 I/V 139 rs181000791 0.1746 None gnomAD-4.0.0 3.7194E-06
14378 60 H/Q 141 rs2059987336 0.4019 None gnomAD-3.1.2 6.57E-06
14378 60 H/Q 141 rs2059987336 0.4019 None gnomAD-4.0.0 6.57358E-06
14378 60 H/R 141 rs878854307 0.4019 None gnomAD-4.0.0 1.59267E-06
14380 62 C/R 144 rs557125278 0.0919 None gnomAD-2.1.1 3.75811E-04
14380 62 C/R 144 rs557125278 0.0919 None gnomAD-3.1.2 1.44615E-04
14380 62 C/R 144 rs557125278 0.0919 None 1000 genomes 1.59744E-03
14380 62 C/R 144 rs557125278 0.0919 None gnomAD-4.0.0 2.07655E-04
14381 63 Q/E 145 rs754568652 0.3593 None gnomAD-2.1.1 4.03E-06
14381 63 Q/E 145 rs754568652 0.3593 None gnomAD-4.0.0 1.59264E-06
14381 63 Q/L 145 rs1433049624 0.3593 None gnomAD-2.1.1 4.03E-06
14381 63 Q/L 145 rs1433049624 0.3593 None gnomAD-4.0.0 1.3689E-06
14382 64 L/Q 146 None 0.6118 None gnomAD-4.0.0 1.59257E-06
14383 65 G/D 148 rs765835336 0.4455 None gnomAD-2.1.1 4.03E-06
14383 65 G/D 148 rs765835336 0.4455 None gnomAD-4.0.0 1.59254E-06
14383 65 G/R 148 None 0.4455 None gnomAD-4.0.0 1.59253E-06
14384 66 M/I 149 rs1454108479 0.2332 None gnomAD-2.1.1 4.03E-06
14384 66 M/I 149 rs1454108479 0.2332 None gnomAD-4.0.0 1.59252E-06
14384 66 M/V 149 rs1450926397 0.2332 None gnomAD-3.1.2 6.57E-06
14384 66 M/V 149 rs1450926397 0.2332 None gnomAD-4.0.0 2.03004E-06
14385 67 T/K 151 rs2059984757 0.3404 None gnomAD-3.1.2 6.58E-06
14385 67 T/K 151 rs2059984757 0.3404 None gnomAD-4.0.0 2.03011E-06
14385 67 T/R 151 None 0.3404 None gnomAD-4.0.0 2.40064E-06
14386 68 G/R 152 rs762501686 0.2066 None gnomAD-2.1.1 4.03E-06
14386 68 G/R 152 rs762501686 0.2066 None gnomAD-3.1.2 6.57E-06
14386 68 G/R 152 rs762501686 0.2066 None gnomAD-4.0.0 6.84444E-07
14387 69 E/A 153 None 0.4570 None gnomAD-4.0.0 1.59251E-06
14387 69 E/Q 153 None 0.4570 None gnomAD-4.0.0 6.84439E-07
14387 69 E/V 153 rs749959242 0.4570 None gnomAD-2.1.1 8.06E-06
14387 69 E/V 153 rs749959242 0.4570 None gnomAD-4.0.0 4.77754E-06
14388 70 V/F 154 None 0.1082 None gnomAD-4.0.0 6.84448E-07
14388 70 V/I 154 rs1385503559 0.1082 None gnomAD-2.1.1 4.03E-06
14388 70 V/I 154 rs1385503559 0.1082 None gnomAD-4.0.0 6.84448E-07
14389 71 S/P 155 None 0.2127 None gnomAD-4.0.0 1.59255E-06
14391 73 Q/E 157 rs768592399 0.4616 None gnomAD-2.1.1 1.21E-05
14391 73 Q/E 157 rs768592399 0.4616 None gnomAD-3.1.2 6.58E-06
14391 73 Q/E 157 rs768592399 0.4616 None gnomAD-4.0.0 7.43915E-06
14391 73 Q/H 157 rs1206302591 0.4616 None gnomAD-2.1.1 4.03E-06
14391 73 Q/H 157 rs1206302591 0.4616 None gnomAD-4.0.0 1.59261E-06
14392 74 A/P 158 rs760934964 0.1433 None gnomAD-2.1.1 4.03E-06
14392 74 A/P 158 rs760934964 0.1433 None gnomAD-4.0.0 3.18527E-06
14392 74 A/S 158 rs760934964 0.1433 None gnomAD-2.1.1 2.82E-05
14392 74 A/S 158 rs760934964 0.1433 None gnomAD-4.0.0 1.11484E-05
14394 76 N/T 161 rs1264004420 0.7253 None gnomAD-2.1.1 4.03E-06
14394 76 N/T 161 rs1264004420 0.7253 None gnomAD-4.0.0 1.59282E-06
14396 78 K/T 163 None 0.6296 None gnomAD-4.0.0 1.20032E-06
14397 79 S/C 164 rs1297192310 0.2083 None gnomAD-2.1.1 4.04E-06
14397 79 S/Y 164 rs1297192310 0.2083 None gnomAD-2.1.1 4.04E-06
14397 79 S/Y 164 rs1297192310 0.2083 None gnomAD-4.0.0 1.59301E-06
14398 80 A/S 165 None 0.3740 None gnomAD-4.0.0 6.84668E-07
14398 80 A/T 165 rs536808297 0.3740 None gnomAD-3.1.2 6.58E-06
14398 80 A/T 165 rs536808297 0.3740 None 1000 genomes 1.99681E-04
14398 80 A/T 165 rs536808297 0.3740 None gnomAD-4.0.0 1.86017E-06
14399 81 A/G 166 None 0.1443 None gnomAD-4.0.0 1.59371E-06
14399 81 A/P 166 None 0.1443 None gnomAD-4.0.0 1.59362E-06
14400 82 N/H 173 rs775820574 0.6245 None gnomAD-2.1.1 4.04E-06
14400 82 N/H 173 rs775820574 0.6245 None gnomAD-4.0.0 3.18763E-06
14400 82 N/K 173 None 0.6245 None gnomAD-4.0.0 1.20032E-06
14400 82 N/S 173 rs772475209 0.6245 None gnomAD-2.1.1 4.04E-06
14400 82 N/S 173 rs772475209 0.6245 None gnomAD-4.0.0 1.59372E-06
14403 85 V/E 176 rs1328335673 0.1188 None gnomAD-2.1.1 4.04E-06
14403 85 V/E 176 rs1328335673 0.1188 None gnomAD-4.0.0 6.8466E-07
14403 85 V/G 176 None 0.1188 None gnomAD-4.0.0 6.8466E-07
14403 85 V/L 176 None 0.1188 None gnomAD-4.0.0 1.36929E-06
14404 86 K/Q 177 None 0.2674 None gnomAD-4.0.0 2.40064E-06
14404 86 K/T 177 rs1296402152 0.2674 None gnomAD-2.1.1 4.04E-06
14404 86 K/T 177 rs1296402152 0.2674 None gnomAD-4.0.0 1.5937E-06