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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
18382 1 I/T 1 None 0.6429 None gnomAD-4.0.0 6.87451E-07
18382 1 I/V 1 rs1233345100 0.6429 None gnomAD-2.1.1 8.24E-06
18382 1 I/V 1 rs1233345100 0.6429 None gnomAD-4.0.0 3.43698E-06
18386 5 D/E 9 rs1368488104 1.0838 None gnomAD-2.1.1 4.05E-06
18386 5 D/E 9 rs1368488104 1.0838 None gnomAD-4.0.0 1.59672E-06
18386 5 D/H 9 None 1.0838 None gnomAD-4.0.0 1.20032E-06
18387 6 C/S 11 None 0.3047 None gnomAD-4.0.0 1.20032E-06
18389 8 V/L 14 None 0.5070 None gnomAD-4.0.0 2.40064E-06
18390 9 C/Y 16 rs759877537 0.1506 None gnomAD-2.1.1 4.04E-06
18393 12 G/S 24 rs2053610320 0.3675 None gnomAD-3.1.2 6.58E-06
18393 12 G/S 24 rs2053610320 0.3675 None gnomAD-4.0.0 6.58068E-06
18395 14 Q/K 26 None 0.4724 None gnomAD-4.0.0 1.59377E-06
18396 15 I/V 28 None 0.1301 None gnomAD-4.0.0 1.59353E-06
18399 18 P/S 31 rs774591174 0.4271 None gnomAD-2.1.1 4.03E-06
18399 18 P/S 31 rs774591174 0.4271 None gnomAD-3.1.2 6.58E-06
18399 18 P/S 31 rs774591174 0.4271 None gnomAD-4.0.0 1.0542E-05
18399 18 P/T 31 None 0.4271 None gnomAD-4.0.0 4.79225E-06
18400 19 A/T 33 rs769472573 0.1985 None gnomAD-2.1.1 3.22E-05
18400 19 A/T 33 rs769472573 0.1985 None gnomAD-3.1.2 1.32E-05
18400 19 A/T 33 rs769472573 0.1985 None gnomAD-4.0.0 1.9842E-05
18400 19 A/V 33 None 0.1985 None gnomAD-4.0.0 2.40064E-06
18402 21 I/L 35 None 0.2262 None gnomAD-4.0.0 1.20032E-06
18402 21 I/N 35 rs776899398 0.2262 None gnomAD-2.1.1 4.03E-06
18402 21 I/N 35 rs776899398 0.2262 None gnomAD-4.0.0 6.84591E-07
18402 21 I/S 35 rs776899398 0.2262 None gnomAD-2.1.1 4.84E-05
18402 21 I/S 35 rs776899398 0.2262 None gnomAD-3.1.2 1.64573E-04
18402 21 I/S 35 rs776899398 0.2262 None gnomAD-4.0.0 3.10052E-05
18403 22 K/E 38 None 0.9389 None gnomAD-4.0.0 1.59329E-06
18404 23 G/V 40 rs746548796 0.3569 None gnomAD-2.1.1 7.16E-06
18404 23 G/V 40 rs746548796 0.3569 None gnomAD-3.1.2 6.58E-06
18404 23 G/V 40 rs746548796 0.3569 None gnomAD-4.0.0 2.56567E-06
18405 24 R/C 41 rs199656264 0.9805 None gnomAD-2.1.1 3.58E-05
18405 24 R/C 41 rs199656264 0.9805 None gnomAD-3.1.2 3.29E-05
18405 24 R/C 41 rs199656264 0.9805 None gnomAD-4.0.0 3.16274E-05
18405 24 R/H 41 rs771921519 0.9805 None gnomAD-2.1.1 2.82E-05
18405 24 R/H 41 rs771921519 0.9805 None gnomAD-4.0.0 1.02688E-05
18406 25 P/S 42 None 0.4765 None gnomAD-4.0.0 1.59328E-06
18407 26 T/A 43 None 0.5760 None gnomAD-4.0.0 1.59329E-06
18407 26 T/I 43 None 0.5760 None gnomAD-4.0.0 1.20032E-06
18408 27 P/S 44 rs1400469796 0.2219 None gnomAD-3.1.2 1.98E-05
18408 27 P/S 44 rs1400469796 0.2219 None gnomAD-4.0.0 5.07684E-06
18409 28 K/E 45 None 0.9403 None gnomAD-4.0.0 2.40064E-06
18410 29 S/L 46 rs1184146630 0.3701 None gnomAD-2.1.1 4.03E-06
18410 29 S/L 46 rs1184146630 0.3701 None gnomAD-4.0.0 1.5933E-06
18410 29 S/P 46 rs778636992 0.3701 None gnomAD-2.1.1 1.21E-05
18410 29 S/P 46 rs778636992 0.3701 None gnomAD-3.1.2 6.59E-06
18410 29 S/P 46 rs778636992 0.3701 None gnomAD-4.0.0 5.13206E-06
18413 32 E/K 49 rs2053599230 0.6514 None gnomAD-4.0.0 1.36917E-06
18414 33 F/I 50 None 0.0823 None gnomAD-4.0.0 1.20032E-06
18416 35 G/R 52 rs749556953 0.2252 None gnomAD-2.1.1 4.03E-06
18417 36 K/N 55 rs1282114647 1.0042 None gnomAD-2.1.1 4.03E-06
18417 36 K/N 55 rs1282114647 1.0042 None gnomAD-3.1.2 6.58E-06
18417 36 K/N 55 rs1282114647 1.0042 None gnomAD-4.0.0 3.84873E-06
18418 37 A/T 56 rs536719544 0.1856 None gnomAD-2.1.1 1.61E-05
18418 37 A/T 56 rs536719544 0.1856 None gnomAD-3.1.2 6.59E-06
18418 37 A/T 56 rs536719544 0.1856 None 1000 genomes 1.99681E-04
18418 37 A/T 56 rs536719544 0.1856 None gnomAD-4.0.0 3.84818E-06
18419 38 K/E 58 rs756145817 0.8868 None gnomAD-2.1.1 8.05E-06
18419 38 K/E 58 rs756145817 0.8868 None gnomAD-4.0.0 3.18656E-06
18419 38 K/Q 58 None 0.8868 None gnomAD-4.0.0 1.59328E-06
18420 39 K/E 59 None 0.2967 None gnomAD-4.0.0 4.10753E-06
18421 40 A/P 60 None 0.3376 None gnomAD-4.0.0 1.20032E-06
18421 40 A/V 60 rs1277409025 0.3376 None gnomAD-2.1.1 4.03E-06
18421 40 A/V 60 rs1277409025 0.3376 None gnomAD-4.0.0 3.18696E-06
18422 41 M/K 61 rs1335806402 0.6496 None gnomAD-2.1.1 4.03E-06
18422 41 M/K 61 rs1335806402 0.6496 None gnomAD-4.0.0 3.18698E-06
18422 41 M/R 61 None 0.6496 None gnomAD-4.0.0 1.59349E-06
18423 42 K/N 62 rs367799017 0.6834 None gnomAD-2.1.1 8.06E-06
18423 42 K/N 62 rs367799017 0.6834 None gnomAD-3.1.2 2.63E-05
18423 42 K/N 62 rs367799017 0.6834 None gnomAD-4.0.0 8.68232E-06
18423 42 K/R 62 rs752722625 0.6834 None gnomAD-2.1.1 1.21E-05
18423 42 K/R 62 rs752722625 0.6834 None gnomAD-4.0.0 4.78037E-06
18424 43 D/G 63 rs1553674352 1.0006 None gnomAD-4.0.0 4.78258E-06
18427 46 H/R 66 None 0.2198 None gnomAD-4.0.0 1.20033E-06
18428 47 D/E 67 rs1343753783 0.3249 None gnomAD-2.1.1 4.05E-06
18428 47 D/E 67 rs1343753783 0.3249 None gnomAD-4.0.0 6.84838E-07
18428 47 D/G 67 rs1430526014 0.3249 None gnomAD-2.1.1 4.05E-06
18428 47 D/G 67 rs1430526014 0.3249 None gnomAD-4.0.0 1.59451E-06
18428 47 D/N 67 None 0.3249 None gnomAD-4.0.0 1.20033E-06
18429 48 I/M 68 None 0.1461 None gnomAD-4.0.0 2.05506E-06
18429 48 I/T 68 None 0.1461 None gnomAD-4.0.0 1.5954E-06
18430 49 P/S 69 rs970752412 0.1291 None gnomAD-2.1.1 4.05E-06
18430 49 P/S 69 rs970752412 0.1291 None gnomAD-4.0.0 1.37005E-06
18431 50 E/K 70 rs756341923 0.6008 None gnomAD-2.1.1 1.22E-05
18431 50 E/K 70 rs756341923 0.6008 None gnomAD-3.1.2 6.58E-06
18431 50 E/K 70 rs756341923 0.6008 None gnomAD-4.0.0 9.30744E-06
18433 52 A/T 102 rs2053557019 0.1762 None gnomAD-4.0.0 1.59686E-06
18434 53 Q/E 122 None 0.5762 None gnomAD-4.0.0 1.59882E-06
18436 55 E/K 125 rs201510986 0.6103 None gnomAD-2.1.1 3.32E-05
18436 55 E/K 125 rs201510986 0.6103 None gnomAD-3.1.2 1.71199E-04
18436 55 E/K 125 rs201510986 0.6103 None gnomAD-4.0.0 2.49524E-05
18437 56 T/A 127 rs1378437369 0.5836 None gnomAD-4.0.0 4.82531E-06
18437 56 T/I 127 None 0.5836 None gnomAD-4.0.0 1.61925E-06
18438 57 A/T 130 rs1416049620 0.4257 None gnomAD-4.0.0 1.62326E-06
18439 58 E/D 131 None 0.9122 None gnomAD-4.0.0 1.37737E-06
18439 58 E/G 131 None 0.9122 None gnomAD-4.0.0 1.61583E-06
18439 58 E/K 131 rs866683190 0.9122 None gnomAD-2.1.1 4.23E-06
18439 58 E/K 131 rs866683190 0.9122 None gnomAD-4.0.0 4.14132E-06
18440 59 N/K 134 rs911563094 0.6321 None gnomAD-3.1.2 6.58E-06
18440 59 N/K 134 rs911563094 0.6321 None gnomAD-4.0.0 2.4939E-06
18440 59 N/S 134 rs747117847 0.6321 None gnomAD-2.1.1 4.2E-06
18445 64 I/V 139 None 0.1831 None gnomAD-4.0.0 2.40064E-06
18447 66 P/A 141 rs2053509362 0.4499 None gnomAD-3.1.2 1.32E-05
18447 66 P/A 141 rs2053509362 0.4499 None gnomAD-4.0.0 1.86542E-06
18447 66 P/L 141 rs397517622 0.4499 None gnomAD-2.1.1 2.46E-05
18447 66 P/L 141 rs397517622 0.4499 None gnomAD-3.1.2 1.32E-05
18447 66 P/L 141 rs397517622 0.4499 None gnomAD-4.0.0 3.29571E-05
18447 66 P/R 141 rs397517622 0.4499 None gnomAD-2.1.1 8.22E-06
18447 66 P/R 141 rs397517622 0.4499 None gnomAD-4.0.0 2.06011E-06
18447 66 P/S 141 None 0.4499 None gnomAD-4.0.0 6.8668E-07
18448 67 E/A 143 rs1297622212 0.7823 None gnomAD-2.1.1 4.11E-06
18448 67 E/A 143 rs1297622212 0.7823 None gnomAD-4.0.0 1.37305E-06
18451 70 R/L 146 None 0.8069 None gnomAD-4.0.0 6.86275E-07
18451 70 R/Q 146 rs755767286 0.8069 None gnomAD-2.1.1 2.87E-05
18451 70 R/Q 146 rs755767286 0.8069 None gnomAD-3.1.2 1.32E-05
18451 70 R/Q 146 rs755767286 0.8069 None gnomAD-4.0.0 2.05083E-05
18452 71 S/C 148 rs567515550 0.2754 None gnomAD-2.1.1 1.23E-05
18452 71 S/C 148 rs567515550 0.2754 None gnomAD-3.1.2 3.29E-05
18452 71 S/C 148 rs567515550 0.2754 None 1000 genomes 1.99681E-04
18452 71 S/C 148 rs567515550 0.2754 None gnomAD-4.0.0 1.42872E-05
18452 71 S/F 148 None 0.2754 None gnomAD-4.0.0 6.86021E-07
18452 71 S/P 148 rs372541479 0.2754 None gnomAD-2.1.1 9.05E-05
18452 71 S/P 148 rs372541479 0.2754 None gnomAD-3.1.2 2.36876E-04
18452 71 S/P 148 rs372541479 0.2754 None 1000 genomes 3.99361E-04
18452 71 S/P 148 rs372541479 0.2754 None gnomAD-4.0.0 3.72736E-05
18453 72 H/D 149 None 0.1722 None gnomAD-4.0.0 3.20112E-06
18453 72 H/R 149 None 0.1722 None gnomAD-4.0.0 6.85901E-07
18454 73 T/A 151 None 0.3029 None gnomAD-4.0.0 6.85952E-07
18454 73 T/I 151 rs1171368715 0.3029 None gnomAD-2.1.1 4.08E-06
18454 73 T/I 151 rs1171368715 0.3029 None gnomAD-3.1.2 1.97E-05
18454 73 T/I 151 rs1171368715 0.3029 None gnomAD-4.0.0 1.92576E-05
18454 73 T/R 151 None 0.3029 None gnomAD-4.0.0 6.8599E-07
18455 74 G/V 152 rs2154193105 0.1341 None gnomAD-3.1.2 6.58E-06
18455 74 G/V 152 rs2154193105 0.1341 None gnomAD-4.0.0 6.57583E-06
18456 75 K/I 153 None 0.3735 None gnomAD-4.0.0 1.20032E-06
18457 76 Y/C 154 None 0.1114 None gnomAD-4.0.0 2.74262E-06
18458 77 S/G 155 rs368890202 0.1715 None gnomAD-2.1.1 4.07E-06
18458 77 S/R 155 rs200550947 0.1715 None gnomAD-2.1.1 4.11537E-04
18458 77 S/R 155 rs200550947 0.1715 None gnomAD-3.1.2 6.05096E-04
18458 77 S/R 155 rs200550947 0.1715 None 1000 genomes 1.99681E-04
18458 77 S/R 155 rs200550947 0.1715 None gnomAD-4.0.0 6.4023E-04
18459 78 I/S 156 None 0.1297 None gnomAD-4.0.0 3.19958E-06
18460 79 T/A 157 rs727503600 0.2548 None gnomAD-2.1.1 6.52E-05
18460 79 T/A 157 rs727503600 0.2548 None gnomAD-3.1.2 1.11794E-04
18460 79 T/A 157 rs727503600 0.2548 None gnomAD-4.0.0 6.58568E-05
18460 79 T/I 157 rs372778818 0.2548 None gnomAD-2.1.1 7.97E-05
18460 79 T/I 157 rs372778818 0.2548 None gnomAD-3.1.2 1.84223E-04
18460 79 T/I 157 rs372778818 0.2548 None 1000 genomes 3.99361E-04
18460 79 T/I 157 rs372778818 0.2548 None gnomAD-4.0.0 3.66573E-05
18461 80 A/P 158 None 0.1799 None gnomAD-4.0.0 2.05869E-06
18461 80 A/T 158 rs776650966 0.1799 None gnomAD-2.1.1 8.18E-06
18461 80 A/T 158 rs776650966 0.1799 None gnomAD-4.0.0 2.05869E-06
18461 80 A/V 158 rs1278548100 0.1799 None gnomAD-2.1.1 8.18E-06
18461 80 A/V 158 rs1278548100 0.1799 None gnomAD-4.0.0 1.60242E-06
18462 81 K/Q 159 rs747050691 0.5807 None gnomAD-2.1.1 2.45E-05
18462 81 K/Q 159 rs747050691 0.5807 None gnomAD-3.1.2 6.58E-06
18462 81 K/Q 159 rs747050691 0.5807 None gnomAD-4.0.0 4.97053E-06
18464 83 K/Q 162 rs565100137 0.9658 None gnomAD-2.1.1 3.28E-05
18464 83 K/Q 162 rs565100137 0.9658 None gnomAD-3.1.2 1.97E-05
18464 83 K/Q 162 rs565100137 0.9658 None 1000 genomes 1.99681E-04
18464 83 K/Q 162 rs565100137 0.9658 None gnomAD-4.0.0 2.85925E-05
18465 84 A/E 163 rs1375595248 0.7323 None gnomAD-2.1.1 4.1E-06
18465 84 A/E 163 rs1375595248 0.7323 None gnomAD-4.0.0 4.81413E-06
18465 84 A/S 163 rs899078606 0.7323 None gnomAD-2.1.1 2.05E-05
18465 84 A/S 163 rs899078606 0.7323 None gnomAD-3.1.2 2.63E-05
18465 84 A/S 163 rs899078606 0.7323 None gnomAD-4.0.0 2.98436E-05
18465 84 A/T 163 rs899078606 0.7323 None gnomAD-2.1.1 8.2E-06
18465 84 A/T 163 rs899078606 0.7323 None gnomAD-3.1.2 6.58E-06
18465 84 A/T 163 rs899078606 0.7323 None gnomAD-4.0.0 1.86523E-06
18466 85 G/R 164 rs772677752 0.3729 None gnomAD-2.1.1 7.66E-05
18466 85 G/R 164 rs772677752 0.3729 None gnomAD-3.1.2 7.24E-05
18466 85 G/R 164 rs772677752 0.3729 None gnomAD-4.0.0 5.28844E-05
18467 86 Q/K 165 None 0.5762 None gnomAD-4.0.0 1.60775E-06
18468 87 K/N 166 None 0.7975 None gnomAD-4.0.0 6.87648E-07
18468 87 K/R 166 None 0.7975 None gnomAD-4.0.0 1.60985E-06
18469 88 T/P 168 rs1044328956 0.4471 None gnomAD-2.1.1 2.09E-05
18469 88 T/P 168 rs1044328956 0.4471 None gnomAD-3.1.2 1.97E-05
18469 88 T/P 168 rs1044328956 0.4471 None gnomAD-4.0.0 8.10793E-06
18470 89 A/T 169 rs1447736099 0.4318 None gnomAD-3.1.2 6.58E-06
18470 89 A/V 169 rs1374641956 0.4318 None gnomAD-2.1.1 4.21E-06
18470 89 A/V 169 rs1374641956 0.4318 None gnomAD-4.0.0 1.17247E-05
18471 90 N/D 171 None 0.5960 None gnomAD-4.0.0 1.62081E-06
18471 90 N/I 171 None 0.5960 None gnomAD-4.0.0 4.87824E-06
18471 90 N/S 171 rs1310909549 0.5960 None gnomAD-2.1.1 1.7E-05
18471 90 N/S 171 rs1310909549 0.5960 None gnomAD-4.0.0 1.62608E-06
18472 91 C/G 172 rs2053489886 0.1717 None gnomAD-4.0.0 4.83489E-06
18472 91 C/R 172 rs2053489886 0.1717 None gnomAD-4.0.0 6.90698E-07
18473 92 R/G 173 rs72646822 0.7105 None gnomAD-2.1.1 1.65709E-04
18473 92 R/G 173 rs72646822 0.7105 None gnomAD-3.1.2 4.2087E-04
18473 92 R/G 173 rs72646822 0.7105 None 1000 genomes 5.99042E-04
18473 92 R/G 173 rs72646822 0.7105 None gnomAD-4.0.0 8.6278E-05
18473 92 R/S 173 None 0.7105 None gnomAD-4.0.0 1.62881E-06
18473 92 R/T 173 rs2053488389 0.7105 None gnomAD-3.1.2 6.58E-06
18473 92 R/T 173 rs2053488389 0.7105 None gnomAD-4.0.0 6.57825E-06
18474 93 V/I 174 rs779583004 0.1130 None gnomAD-2.1.1 1.02594E-04
18474 93 V/I 174 rs779583004 0.1130 None gnomAD-3.1.2 1.32E-05
18474 93 V/I 174 rs779583004 0.1130 None gnomAD-4.0.0 3.7544E-05
18476 95 V/I 177 rs780649835 0.1258 None gnomAD-2.1.1 8.58E-06
18476 95 V/I 177 rs780649835 0.1258 None gnomAD-4.0.0 1.38402E-06
18476 95 V/L 177 rs780649835 0.1258 None gnomAD-2.1.1 4.29E-06
18476 95 V/L 177 rs780649835 0.1258 None gnomAD-4.0.0 6.92008E-07