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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
30225 2 P/S 2 None 0.1257 None gnomAD-4.0.0 1.59227E-06
30226 3 S/P 3 rs1334122653 0.2146 None gnomAD-2.1.1 4.04E-06
30226 3 S/P 3 rs1334122653 0.2146 None gnomAD-4.0.0 1.59227E-06
30227 4 K/M 4 None 0.6535 None gnomAD-4.0.0 2.05314E-06
30228 5 P/S 5 None 0.1293 None gnomAD-4.0.0 1.36877E-06
30228 5 P/T 5 None 0.1293 None gnomAD-4.0.0 6.84387E-07
30229 6 K/E 6 rs1311556437 0.7353 None gnomAD-2.1.1 4.04E-06
30229 6 K/E 6 rs1311556437 0.7353 None gnomAD-4.0.0 6.15936E-06
30230 7 G/E 7 None 0.4970 None gnomAD-4.0.0 1.59224E-06
30230 7 G/R 7 rs1431511352 0.4970 None gnomAD-3.1.2 6.57E-06
30230 7 G/R 7 rs1431511352 0.4970 None gnomAD-4.0.0 1.36876E-06
30231 8 P/S 8 rs373722546 0.8094 None gnomAD-2.1.1 4.65E-05
30231 8 P/S 8 rs373722546 0.8094 None gnomAD-3.1.2 1.31475E-04
30231 8 P/S 8 rs373722546 0.8094 None 1000 genomes 5.99042E-04
30231 8 P/S 8 rs373722546 0.8094 None gnomAD-4.0.0 1.79737E-05
30232 9 I/F 9 None 0.1578 None gnomAD-4.0.0 2.73742E-06
30232 9 I/T 9 rs779172234 0.1578 None gnomAD-2.1.1 1.21E-05
30232 9 I/T 9 rs779172234 0.1578 None gnomAD-4.0.0 3.42157E-06
30232 9 I/V 9 None 0.1578 None gnomAD-4.0.0 6.84356E-07
30233 10 R/Q 11 rs757438306 0.3669 None gnomAD-2.1.1 3.58E-05
30233 10 R/Q 11 rs757438306 0.3669 None gnomAD-3.1.2 1.97E-05
30233 10 R/Q 11 rs757438306 0.3669 None gnomAD-4.0.0 1.54951E-05
30234 11 F/I 12 None 0.3546 None gnomAD-4.0.0 1.59165E-06
30234 11 F/S 12 None 0.3546 None gnomAD-4.0.0 1.59168E-06
30235 12 D/E 13 rs753966975 0.5660 None gnomAD-2.1.1 4.03E-06
30235 12 D/E 13 rs753966975 0.5660 None gnomAD-4.0.0 4.1057E-06
30235 12 D/N 13 rs1172858203 0.5660 None gnomAD-2.1.1 4.03E-06
30235 12 D/N 13 rs1172858203 0.5660 None gnomAD-4.0.0 2.05289E-06
30236 13 E/G 14 None 0.4521 None gnomAD-4.0.0 6.84276E-07
30236 13 E/K 14 rs974510652 0.4521 None gnomAD-2.1.1 4.03E-06
30236 13 E/K 14 rs974510652 0.4521 None gnomAD-3.1.2 6.57E-06
30236 13 E/K 14 rs974510652 0.4521 None gnomAD-4.0.0 3.844E-06
30237 14 I/V 15 rs370272916 0.4374 None gnomAD-2.1.1 1.61E-05
30237 14 I/V 15 rs370272916 0.4374 None gnomAD-3.1.2 3.29E-05
30237 14 I/V 15 rs370272916 0.4374 None gnomAD-4.0.0 1.67325E-05
30239 16 A/T 17 rs879126335 0.1031 None gnomAD-4.0.0 1.5914E-06
30241 18 S/N 19 None 0.1304 None gnomAD-4.0.0 1.59129E-06
30242 19 V/F 20 rs756607075 0.0945 None gnomAD-2.1.1 8.05E-06
30242 19 V/F 20 rs756607075 0.0945 None gnomAD-4.0.0 4.77389E-06
30243 20 I/F 21 rs925184690 0.2157 None gnomAD-2.1.1 1.79E-05
30243 20 I/F 21 rs925184690 0.2157 None gnomAD-3.1.2 5.91E-05
30243 20 I/F 21 rs925184690 0.2157 None gnomAD-4.0.0 1.05345E-05
30243 20 I/M 21 rs753176908 0.2157 None gnomAD-2.1.1 4.03E-06
30243 20 I/M 21 rs753176908 0.2157 None gnomAD-4.0.0 1.59123E-06
30245 22 S/L 23 rs1407888645 0.1531 None gnomAD-4.0.0 1.59125E-06
30247 24 D/E 25 rs1351789713 0.4576 None gnomAD-4.0.0 1.59126E-06
30247 24 D/G 25 rs540756997 0.4576 None gnomAD-2.1.1 4.02E-06
30247 24 D/G 25 rs540756997 0.4576 None gnomAD-3.1.2 6.57E-06
30247 24 D/G 25 rs540756997 0.4576 None 1000 genomes 1.99681E-04
30247 24 D/G 25 rs540756997 0.4576 None gnomAD-4.0.0 2.56167E-06
30248 25 V/I 26 rs727505024 0.6230 None gnomAD-2.1.1 1.00607E-04
30248 25 V/I 26 rs727505024 0.6230 None gnomAD-3.1.2 1.31E-05
30248 25 V/I 26 rs727505024 0.6230 None gnomAD-4.0.0 3.84326E-05
30249 26 P/A 27 rs751971702 0.2113 None gnomAD-2.1.1 4.02E-06
30249 26 P/A 27 rs751971702 0.2113 None gnomAD-3.1.2 6.58E-06
30249 26 P/A 27 rs751971702 0.2113 None gnomAD-4.0.0 1.8593E-06
30249 26 P/S 27 None 0.2113 None gnomAD-4.0.0 6.84209E-07
30250 27 E/A 28 rs776305858 1.0587 None gnomAD-2.1.1 4.02E-06
30250 27 E/A 28 rs776305858 1.0587 None gnomAD-3.1.2 6.57E-06
30250 27 E/A 28 rs776305858 1.0587 None gnomAD-4.0.0 2.56219E-06
30250 27 E/K 28 rs200651247 1.0587 None gnomAD-2.1.1 2.86E-05
30250 27 E/K 28 rs200651247 1.0587 None gnomAD-3.1.2 3.29E-05
30250 27 E/K 28 rs200651247 1.0587 None gnomAD-4.0.0 1.12163E-04
30251 28 D/G 29 rs374014652 0.5444 None gnomAD-2.1.1 8.05E-06
30251 28 D/G 29 rs374014652 0.5444 None gnomAD-4.0.0 3.18245E-06
30251 28 D/H 29 rs768172616 0.5444 None gnomAD-4.0.0 1.59124E-06
30251 28 D/N 29 rs768172616 0.5444 None gnomAD-3.1.2 6.57E-06
30251 28 D/N 29 rs768172616 0.5444 None gnomAD-4.0.0 6.57134E-06
30254 31 G/R 32 rs1060500495 0.3969 None gnomAD-3.1.2 6.57E-06
30254 31 G/R 32 rs1060500495 0.3969 None gnomAD-4.0.0 6.8422E-07
30255 32 G/R 33 rs775441664 0.2022 None gnomAD-2.1.1 8.05E-06
30255 32 G/R 33 rs775441664 0.2022 None gnomAD-4.0.0 4.78952E-06
30256 33 E/A 34 None 0.9697 None gnomAD-4.0.0 6.84213E-07
30256 33 E/K 34 None 0.9697 None gnomAD-4.0.0 1.20056E-06
30257 34 I/V 35 None 0.2209 None gnomAD-4.0.0 1.59132E-06
30259 36 C/W 37 rs1699680559 0.1436 None gnomAD-4.0.0 3.60097E-06
30261 38 S/G 39 None 0.2046 None gnomAD-4.0.0 3.18256E-06
30261 38 S/I 39 None 0.2046 None gnomAD-4.0.0 6.84236E-07
30261 38 S/T 39 None 0.2046 None gnomAD-4.0.0 2.05271E-06
30262 39 I/L 40 None 0.0823 None gnomAD-4.0.0 1.59129E-06
30263 40 E/K 41 rs745701838 0.1131 None gnomAD-2.1.1 1.21E-05
30263 40 E/K 41 rs745701838 0.1131 None gnomAD-3.1.2 1.31E-05
30263 40 E/K 41 rs745701838 0.1131 None gnomAD-4.0.0 6.81697E-06
30264 41 K/R 42 None 0.1658 None gnomAD-4.0.0 1.20032E-06
30265 42 R/G 43 None 0.2480 None gnomAD-4.0.0 1.3685E-06
30265 42 R/Q 43 rs771164863 0.2480 None gnomAD-2.1.1 4.02E-06
30265 42 R/Q 43 rs771164863 0.2480 None gnomAD-3.1.2 6.57E-06
30265 42 R/Q 43 rs771164863 0.2480 None gnomAD-4.0.0 9.91627E-06
30265 42 R/W 43 rs200022152 0.2480 None gnomAD-2.1.1 9.29E-05
30265 42 R/W 43 rs200022152 0.2480 None gnomAD-3.1.2 1.44665E-04
30265 42 R/W 43 rs200022152 0.2480 None 1000 genomes 1.99681E-04
30265 42 R/W 43 rs200022152 0.2480 None gnomAD-4.0.0 8.11825E-05
30266 43 E/G 44 None 0.2603 None gnomAD-4.0.0 1.20032E-06
30267 44 T/A 50 rs377365979 0.3420 None gnomAD-2.1.1 2.14E-05
30267 44 T/A 50 rs377365979 0.3420 None gnomAD-3.1.2 1.31E-05
30267 44 T/A 50 rs377365979 0.3420 None gnomAD-4.0.0 5.5774E-06
30267 44 T/N 50 None 0.3420 None gnomAD-4.0.0 1.59141E-06
30272 49 W/L 65 None 0.2576 None gnomAD-4.0.0 1.59147E-06
30272 49 W/R 65 rs777716014 0.2576 None gnomAD-2.1.1 4.02E-06
30272 49 W/R 65 rs777716014 0.2576 None gnomAD-4.0.0 1.36848E-06
30273 50 K/N 66 rs1307577297 0.5944 None gnomAD-4.0.0 3.18286E-06
30274 51 M/I 67 rs898696376 0.3443 None gnomAD-2.1.1 3.19E-05
30274 51 M/I 67 rs898696376 0.3443 None gnomAD-3.1.2 1.31E-05
30274 51 M/I 67 rs898696376 0.3443 None gnomAD-4.0.0 6.08991E-06
30275 52 V/A 68 rs563222480 0.2170 None gnomAD-3.1.2 6.57E-06
30275 52 V/A 68 rs563222480 0.2170 None gnomAD-4.0.0 2.56239E-06
30275 52 V/E 68 rs563222480 0.2170 None gnomAD-2.1.1 4.02E-06
30275 52 V/E 68 rs563222480 0.2170 None gnomAD-3.1.2 6.57E-06
30275 52 V/E 68 rs563222480 0.2170 None gnomAD-4.0.0 8.967E-06
30275 52 V/M 68 None 0.2170 None gnomAD-4.0.0 6.84244E-07
30276 53 C/G 69 rs150430592 0.1498 None gnomAD-2.1.1 3.27766E-03
30276 53 C/G 69 rs150430592 0.1498 None gnomAD-3.1.2 1.72869E-03
30276 53 C/G 69 rs150430592 0.1498 None 1000 genomes 5.99042E-03
30276 53 C/G 69 rs150430592 0.1498 None gnomAD-4.0.0 2.10694E-03
30276 53 C/S 69 None 0.1498 None gnomAD-4.0.0 1.20032E-06
30277 54 S/L 70 rs1490223188 0.4849 None gnomAD-2.1.1 4.02E-06
30277 54 S/L 70 rs1490223188 0.4849 None gnomAD-4.0.0 1.59144E-06
30277 54 S/P 70 None 0.4849 None gnomAD-4.0.0 1.59137E-06
30278 55 S/N 75 None 0.5677 None gnomAD-4.0.0 6.15814E-06
30278 55 S/R 75 rs397517751 0.5677 None gnomAD-2.1.1 4.02E-06
30278 55 S/R 75 rs397517751 0.5677 None gnomAD-4.0.0 1.59138E-06
30280 57 A/S 83 rs752021114 0.6000 None gnomAD-2.1.1 4.02E-06
30280 57 A/S 83 rs752021114 0.6000 None gnomAD-4.0.0 1.59152E-06
30280 57 A/T 83 None 0.6000 None gnomAD-4.0.0 1.59152E-06
30280 57 A/V 83 rs868306395 0.6000 None gnomAD-4.0.0 1.20032E-06
30282 59 T/M 89 rs756769026 0.2793 None gnomAD-2.1.1 3.21E-05
30282 59 T/M 89 rs756769026 0.2793 None gnomAD-3.1.2 4.6E-05
30282 59 T/M 89 rs756769026 0.2793 None gnomAD-4.0.0 2.47899E-05
30282 59 T/R 89 None 0.2793 None gnomAD-4.0.0 6.84258E-07
30283 60 T/N 90 rs1385680700 0.3884 None gnomAD-4.0.0 1.59155E-06
30286 63 V/F 93 None 0.0973 None gnomAD-4.0.0 6.84277E-07
30288 65 N/T 96 rs763525672 0.7623 None gnomAD-2.1.1 3.22E-05
30288 65 N/T 96 rs763525672 0.7623 None gnomAD-3.1.2 6.57E-06
30288 65 N/T 96 rs763525672 0.7623 None gnomAD-4.0.0 1.0536E-05
30289 66 L/P 97 rs1338109334 0.1075 None gnomAD-2.1.1 4.02E-06
30289 66 L/P 97 rs1338109334 0.1075 None gnomAD-4.0.0 1.59187E-06
30290 67 V/G 98 None 0.5260 None gnomAD-4.0.0 1.59208E-06
30291 68 K/R 99 rs1575514675 0.5226 None gnomAD-4.0.0 1.59207E-06
30292 69 D/N 100 None 0.6380 None gnomAD-4.0.0 1.5922E-06
30293 70 A/S 102 rs1299709858 0.1635 None gnomAD-2.1.1 4.03E-06
30293 70 A/S 102 rs1299709858 0.1635 None gnomAD-4.0.0 6.84483E-07
30293 70 A/T 102 rs1299709858 0.1635 None gnomAD-3.1.2 6.57E-06
30293 70 A/T 102 rs1299709858 0.1635 None gnomAD-4.0.0 2.47966E-06
30294 71 E/A 103 None 0.4862 None gnomAD-4.0.0 1.59281E-06
30294 71 E/D 103 None 0.4862 None gnomAD-4.0.0 2.05356E-06
30295 72 Y/C 104 rs369202604 0.1006 None gnomAD-3.1.2 6.57E-06
30295 72 Y/C 104 rs369202604 0.1006 None gnomAD-4.0.0 3.04481E-06
30296 73 Q/P 105 None 0.1681 None gnomAD-4.0.0 1.59307E-06
30297 74 F/L 106 rs774830322 0.1006 None gnomAD-2.1.1 4.03E-06
30297 74 F/L 106 rs774830322 0.1006 None gnomAD-4.0.0 1.59342E-06
30298 75 R/G 107 None 0.1244 None gnomAD-4.0.0 1.20032E-06
30298 75 R/S 107 rs751088273 0.1244 None gnomAD-4.0.0 3.60097E-06
30298 75 R/T 107 rs767538180 0.1244 None gnomAD-2.1.1 4.03E-06
30298 75 R/T 107 rs767538180 0.1244 None gnomAD-4.0.0 1.36941E-06
30299 76 V/L 108 rs774161568 0.0886 None gnomAD-2.1.1 1.43E-05
30299 76 V/L 108 rs774161568 0.0886 None gnomAD-3.1.2 1.31E-05
30299 76 V/L 108 rs774161568 0.0886 None gnomAD-4.0.0 6.4142E-06
30300 77 R/S 109 rs770641872 0.1713 None gnomAD-2.1.1 1.21E-05
30300 77 R/S 109 rs770641872 0.1713 None gnomAD-3.1.2 6.57E-06
30300 77 R/S 109 rs770641872 0.1713 None gnomAD-4.0.0 9.30661E-06
30302 79 E/K 111 rs1553538924 0.3595 None gnomAD-4.0.0 2.40064E-06
30303 80 N/D 112 rs749521838 0.0791 None gnomAD-2.1.1 4.03E-06
30303 80 N/D 112 rs749521838 0.0791 None gnomAD-4.0.0 1.59587E-06
30303 80 N/I 112 None 0.0791 None gnomAD-4.0.0 1.20032E-06
30304 81 R/G 113 None 0.4479 None gnomAD-4.0.0 3.19291E-06
30305 82 Y/H 114 rs544353741 0.1922 None gnomAD-2.1.1 1.44928E-04
30305 82 Y/H 114 rs544353741 0.1922 None gnomAD-3.1.2 1.11758E-04
30305 82 Y/H 114 rs544353741 0.1922 None 1000 genomes 1.39776E-03
30305 82 Y/H 114 rs544353741 0.1922 None gnomAD-4.0.0 7.32062E-05
30306 83 G/R 115 rs267599029 0.1704 None gnomAD-2.1.1 2.42E-05
30306 83 G/R 115 rs267599029 0.1704 None gnomAD-4.0.0 6.85163E-07
30307 84 V/D 117 rs1452208068 0.4225 None gnomAD-2.1.1 4.02E-06
30307 84 V/D 117 rs1452208068 0.4225 None gnomAD-4.0.0 1.59722E-06
30308 85 S/C 118 None 0.0997 None gnomAD-4.0.0 1.59636E-06
30308 85 S/N 118 rs747482598 0.0997 None gnomAD-2.1.1 6.84E-05
30308 85 S/N 118 rs747482598 0.0997 None gnomAD-3.1.2 1.97E-05
30308 85 S/N 118 rs747482598 0.0997 None gnomAD-4.0.0 2.54413E-05
30308 85 S/R 118 rs755569117 0.0997 None gnomAD-2.1.1 4.02E-06
30309 86 Q/K 119 rs990620732 0.6715 None gnomAD-3.1.2 6.58E-06
30309 86 Q/K 119 rs990620732 0.6715 None gnomAD-4.0.0 6.57704E-06
30310 87 P/L 120 None 0.3108 None gnomAD-4.0.0 1.59631E-06
30312 89 V/D 122 None 0.3466 None gnomAD-4.0.0 1.59565E-06
30312 89 V/F 122 rs750742292 0.3466 None gnomAD-2.1.1 1.07E-05
30312 89 V/F 122 rs750742292 0.3466 None gnomAD-3.1.2 3.29E-05
30312 89 V/F 122 rs750742292 0.3466 None gnomAD-4.0.0 4.34279E-06
30312 89 V/I 122 rs750742292 0.3466 None gnomAD-2.1.1 1.21E-05
30312 89 V/I 122 rs750742292 0.3466 None gnomAD-4.0.0 2.74019E-06
30314 91 S/G 124 None 0.4920 None gnomAD-4.0.0 1.59504E-06
30314 91 S/R 124 rs927742381 0.4920 None gnomAD-3.1.2 6.57E-06
30314 91 S/R 124 rs927742381 0.4920 None gnomAD-4.0.0 6.57419E-06
30314 91 S/T 124 rs763875418 0.4920 None gnomAD-2.1.1 4.02E-06
30314 91 S/T 124 rs763875418 0.4920 None gnomAD-4.0.0 3.19001E-06
30315 92 I/T 126 rs755698637 0.4668 None gnomAD-2.1.1 4.02E-06
30315 92 I/T 126 rs755698637 0.4668 None gnomAD-4.0.0 2.73899E-06
30316 93 I/N 127 rs140531141 0.1393 None gnomAD-3.1.2 6.57E-06
30316 93 I/N 127 rs140531141 0.1393 None gnomAD-4.0.0 1.24018E-06
30316 93 I/T 127 rs140531141 0.1393 None gnomAD-2.1.1 2.01E-05
30316 93 I/T 127 rs140531141 0.1393 None gnomAD-3.1.2 1.97E-05
30316 93 I/T 127 rs140531141 0.1393 None 1000 genomes 3.99361E-04
30316 93 I/T 127 rs140531141 0.1393 None gnomAD-4.0.0 4.3403E-06
30316 93 I/V 127 None 0.1393 None gnomAD-4.0.0 3.60097E-06
30317 94 V/A 128 rs759474127 0.4492 None gnomAD-2.1.1 3.57E-05
30317 94 V/A 128 rs759474127 0.4492 None gnomAD-3.1.2 8.54E-05
30317 94 V/A 128 rs759474127 0.4492 None gnomAD-4.0.0 2.04631E-05
30317 94 V/E 128 rs759474127 0.4492 None gnomAD-2.1.1 1.61E-05
30317 94 V/E 128 rs759474127 0.4492 None gnomAD-4.0.0 8.90109E-06
30318 95 A/G 130 rs774212641 0.0892 None gnomAD-2.1.1 4.02E-06
30318 95 A/G 130 rs774212641 0.0892 None gnomAD-4.0.0 3.18606E-06
30319 96 K/N 131 rs1171847318 0.6817 None gnomAD-4.0.0 1.59299E-06
30320 97 H/R 132 rs1244743041 0.5837 None gnomAD-3.1.2 1.31E-05
30320 97 H/R 132 rs1244743041 0.5837 None gnomAD-4.0.0 6.19918E-06