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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

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
30225 2 P/S 2 None 0.1065 None gnomAD-4.0.0 1.59227E-06
30226 3 S/P 3 rs1334122653 0.1853 None gnomAD-2.1.1 4.04E-06
30226 3 S/P 3 rs1334122653 0.1853 None gnomAD-4.0.0 1.59227E-06
30227 4 K/M 4 None 0.6035 None gnomAD-4.0.0 2.05314E-06
30228 5 P/S 5 None 0.1101 None gnomAD-4.0.0 1.36877E-06
30228 5 P/T 5 None 0.1101 None gnomAD-4.0.0 6.84387E-07
30229 6 K/E 6 rs1311556437 0.6566 None gnomAD-2.1.1 4.04E-06
30229 6 K/E 6 rs1311556437 0.6566 None gnomAD-4.0.0 6.15936E-06
30230 7 G/E 7 None 0.4604 None gnomAD-4.0.0 1.59224E-06
30230 7 G/R 7 rs1431511352 0.4604 None gnomAD-3.1.2 6.57E-06
30230 7 G/R 7 rs1431511352 0.4604 None gnomAD-4.0.0 1.36876E-06
30231 8 P/S 8 rs373722546 0.7385 None gnomAD-2.1.1 4.65E-05
30231 8 P/S 8 rs373722546 0.7385 None gnomAD-3.1.2 1.31475E-04
30231 8 P/S 8 rs373722546 0.7385 None 1000 genomes 5.99042E-04
30231 8 P/S 8 rs373722546 0.7385 None gnomAD-4.0.0 1.79737E-05
30232 9 I/F 9 None 0.1326 None gnomAD-4.0.0 2.73742E-06
30232 9 I/T 9 rs779172234 0.1326 None gnomAD-2.1.1 1.21E-05
30232 9 I/T 9 rs779172234 0.1326 None gnomAD-4.0.0 3.42157E-06
30232 9 I/V 9 None 0.1326 None gnomAD-4.0.0 6.84356E-07
30233 10 R/Q 11 rs757438306 0.3047 None gnomAD-2.1.1 3.58E-05
30233 10 R/Q 11 rs757438306 0.3047 None gnomAD-3.1.2 1.97E-05
30233 10 R/Q 11 rs757438306 0.3047 None gnomAD-4.0.0 1.54951E-05
30234 11 F/I 12 None 0.2709 None gnomAD-4.0.0 1.59165E-06
30234 11 F/S 12 None 0.2709 None gnomAD-4.0.0 1.59168E-06
30235 12 D/E 13 rs753966975 0.4793 None gnomAD-2.1.1 4.03E-06
30235 12 D/E 13 rs753966975 0.4793 None gnomAD-4.0.0 4.1057E-06
30235 12 D/N 13 rs1172858203 0.4793 None gnomAD-2.1.1 4.03E-06
30235 12 D/N 13 rs1172858203 0.4793 None gnomAD-4.0.0 2.05289E-06
30236 13 E/G 14 None 0.3834 None gnomAD-4.0.0 6.84276E-07
30236 13 E/K 14 rs974510652 0.3834 None gnomAD-2.1.1 4.03E-06
30236 13 E/K 14 rs974510652 0.3834 None gnomAD-3.1.2 6.57E-06
30236 13 E/K 14 rs974510652 0.3834 None gnomAD-4.0.0 3.844E-06
30237 14 I/V 15 rs370272916 0.2034 None gnomAD-2.1.1 1.61E-05
30237 14 I/V 15 rs370272916 0.2034 None gnomAD-3.1.2 3.29E-05
30237 14 I/V 15 rs370272916 0.2034 None gnomAD-4.0.0 1.67325E-05
30239 16 A/T 17 rs879126335 0.1506 None gnomAD-4.0.0 1.5914E-06
30241 18 S/N 19 None 0.1442 None gnomAD-4.0.0 1.59129E-06
30242 19 V/F 20 rs756607075 0.0893 None gnomAD-2.1.1 8.05E-06
30242 19 V/F 20 rs756607075 0.0893 None gnomAD-4.0.0 4.77389E-06
30243 20 I/F 21 rs925184690 0.2364 None gnomAD-2.1.1 1.79E-05
30243 20 I/F 21 rs925184690 0.2364 None gnomAD-3.1.2 5.91E-05
30243 20 I/F 21 rs925184690 0.2364 None gnomAD-4.0.0 1.05345E-05
30243 20 I/M 21 rs753176908 0.2364 None gnomAD-2.1.1 4.03E-06
30243 20 I/M 21 rs753176908 0.2364 None gnomAD-4.0.0 1.59123E-06
30245 22 S/L 23 rs1407888645 0.1374 None gnomAD-4.0.0 1.59125E-06
30247 24 D/E 25 rs1351789713 0.3695 None gnomAD-4.0.0 1.59126E-06
30247 24 D/G 25 rs540756997 0.3695 None gnomAD-2.1.1 4.02E-06
30247 24 D/G 25 rs540756997 0.3695 None gnomAD-3.1.2 6.57E-06
30247 24 D/G 25 rs540756997 0.3695 None 1000 genomes 1.99681E-04
30247 24 D/G 25 rs540756997 0.3695 None gnomAD-4.0.0 2.56167E-06
30248 25 V/I 26 rs727505024 0.5755 None gnomAD-2.1.1 1.00607E-04
30248 25 V/I 26 rs727505024 0.5755 None gnomAD-3.1.2 1.31E-05
30248 25 V/I 26 rs727505024 0.5755 None gnomAD-4.0.0 3.84326E-05
30249 26 P/A 27 rs751971702 0.1604 None gnomAD-2.1.1 4.02E-06
30249 26 P/A 27 rs751971702 0.1604 None gnomAD-3.1.2 6.58E-06
30249 26 P/A 27 rs751971702 0.1604 None gnomAD-4.0.0 1.8593E-06
30249 26 P/S 27 None 0.1604 None gnomAD-4.0.0 6.84209E-07
30250 27 E/A 28 rs776305858 1.0014 None gnomAD-2.1.1 4.02E-06
30250 27 E/A 28 rs776305858 1.0014 None gnomAD-3.1.2 6.57E-06
30250 27 E/A 28 rs776305858 1.0014 None gnomAD-4.0.0 2.56219E-06
30250 27 E/K 28 rs200651247 1.0014 None gnomAD-2.1.1 2.86E-05
30250 27 E/K 28 rs200651247 1.0014 None gnomAD-3.1.2 3.29E-05
30250 27 E/K 28 rs200651247 1.0014 None gnomAD-4.0.0 1.12163E-04
30251 28 D/G 29 rs374014652 0.3838 None gnomAD-2.1.1 8.05E-06
30251 28 D/G 29 rs374014652 0.3838 None gnomAD-4.0.0 3.18245E-06
30251 28 D/H 29 rs768172616 0.3838 None gnomAD-4.0.0 1.59124E-06
30251 28 D/N 29 rs768172616 0.3838 None gnomAD-3.1.2 6.57E-06
30251 28 D/N 29 rs768172616 0.3838 None gnomAD-4.0.0 6.57134E-06
30254 31 G/R 32 rs1060500495 0.3516 None gnomAD-3.1.2 6.57E-06
30254 31 G/R 32 rs1060500495 0.3516 None gnomAD-4.0.0 6.8422E-07
30255 32 G/R 33 rs775441664 0.2148 None gnomAD-2.1.1 8.05E-06
30255 32 G/R 33 rs775441664 0.2148 None gnomAD-4.0.0 4.78952E-06
30256 33 E/A 34 None 0.9742 None gnomAD-4.0.0 6.84213E-07
30256 33 E/K 34 None 0.9742 None gnomAD-4.0.0 1.20056E-06
30257 34 I/V 35 None 0.2234 None gnomAD-4.0.0 1.59132E-06
30259 36 C/W 37 rs1699680559 0.1555 None gnomAD-4.0.0 3.60097E-06
30261 38 S/G 39 None 0.2226 None gnomAD-4.0.0 3.18256E-06
30261 38 S/I 39 None 0.2226 None gnomAD-4.0.0 6.84236E-07
30261 38 S/T 39 None 0.2226 None gnomAD-4.0.0 2.05271E-06
30262 39 I/L 40 None 0.0924 None gnomAD-4.0.0 1.59129E-06
30263 40 E/K 41 rs745701838 0.1149 None gnomAD-2.1.1 1.21E-05
30263 40 E/K 41 rs745701838 0.1149 None gnomAD-3.1.2 1.31E-05
30263 40 E/K 41 rs745701838 0.1149 None gnomAD-4.0.0 6.81697E-06
30264 41 K/R 42 None 0.1843 None gnomAD-4.0.0 1.20032E-06
30265 42 R/G 43 None 0.2507 None gnomAD-4.0.0 1.3685E-06
30265 42 R/Q 43 rs771164863 0.2507 None gnomAD-2.1.1 4.02E-06
30265 42 R/Q 43 rs771164863 0.2507 None gnomAD-3.1.2 6.57E-06
30265 42 R/Q 43 rs771164863 0.2507 None gnomAD-4.0.0 9.91627E-06
30265 42 R/W 43 rs200022152 0.2507 None gnomAD-2.1.1 9.29E-05
30265 42 R/W 43 rs200022152 0.2507 None gnomAD-3.1.2 1.44665E-04
30265 42 R/W 43 rs200022152 0.2507 None 1000 genomes 1.99681E-04
30265 42 R/W 43 rs200022152 0.2507 None gnomAD-4.0.0 8.11825E-05
30266 43 E/G 44 None 0.2561 None gnomAD-4.0.0 1.20032E-06
30267 44 T/A 50 rs377365979 0.3629 None gnomAD-2.1.1 2.14E-05
30267 44 T/A 50 rs377365979 0.3629 None gnomAD-3.1.2 1.31E-05
30267 44 T/A 50 rs377365979 0.3629 None gnomAD-4.0.0 5.5774E-06
30267 44 T/N 50 None 0.3629 None gnomAD-4.0.0 1.59141E-06
30272 49 W/L 65 None 0.2456 None gnomAD-4.0.0 1.59147E-06
30272 49 W/R 65 rs777716014 0.2456 None gnomAD-2.1.1 4.02E-06
30272 49 W/R 65 rs777716014 0.2456 None gnomAD-4.0.0 1.36848E-06
30273 50 K/N 66 rs1307577297 0.5136 None gnomAD-4.0.0 3.18286E-06
30274 51 M/I 67 rs898696376 0.3696 None gnomAD-2.1.1 3.19E-05
30274 51 M/I 67 rs898696376 0.3696 None gnomAD-3.1.2 1.31E-05
30274 51 M/I 67 rs898696376 0.3696 None gnomAD-4.0.0 6.08991E-06
30275 52 V/A 68 rs563222480 0.2535 None gnomAD-3.1.2 6.57E-06
30275 52 V/A 68 rs563222480 0.2535 None gnomAD-4.0.0 2.56239E-06
30275 52 V/E 68 rs563222480 0.2535 None gnomAD-2.1.1 4.02E-06
30275 52 V/E 68 rs563222480 0.2535 None gnomAD-3.1.2 6.57E-06
30275 52 V/E 68 rs563222480 0.2535 None gnomAD-4.0.0 8.967E-06
30275 52 V/M 68 None 0.2535 None gnomAD-4.0.0 6.84244E-07
30276 53 C/G 69 rs150430592 0.1792 None gnomAD-2.1.1 3.27766E-03
30276 53 C/G 69 rs150430592 0.1792 None gnomAD-3.1.2 1.72869E-03
30276 53 C/G 69 rs150430592 0.1792 None 1000 genomes 5.99042E-03
30276 53 C/G 69 rs150430592 0.1792 None gnomAD-4.0.0 2.10694E-03
30276 53 C/S 69 None 0.1792 None gnomAD-4.0.0 1.20032E-06
30277 54 S/L 70 rs1490223188 0.5384 None gnomAD-2.1.1 4.02E-06
30277 54 S/L 70 rs1490223188 0.5384 None gnomAD-4.0.0 1.59144E-06
30277 54 S/P 70 None 0.5384 None gnomAD-4.0.0 1.59137E-06
30278 55 S/N 75 None 0.6107 None gnomAD-4.0.0 6.15814E-06
30278 55 S/R 75 rs397517751 0.6107 None gnomAD-2.1.1 4.02E-06
30278 55 S/R 75 rs397517751 0.6107 None gnomAD-4.0.0 1.59138E-06
30280 57 A/S 83 rs752021114 0.6431 None gnomAD-2.1.1 4.02E-06
30280 57 A/S 83 rs752021114 0.6431 None gnomAD-4.0.0 1.59152E-06
30280 57 A/T 83 None 0.6431 None gnomAD-4.0.0 1.59152E-06
30280 57 A/V 83 rs868306395 0.6431 None gnomAD-4.0.0 1.20032E-06
30282 59 T/M 89 rs756769026 0.2431 None gnomAD-2.1.1 3.21E-05
30282 59 T/M 89 rs756769026 0.2431 None gnomAD-3.1.2 4.6E-05
30282 59 T/M 89 rs756769026 0.2431 None gnomAD-4.0.0 2.47899E-05
30282 59 T/R 89 None 0.2431 None gnomAD-4.0.0 6.84258E-07
30283 60 T/N 90 rs1385680700 0.4040 None gnomAD-4.0.0 1.59155E-06
30286 63 V/F 93 None 0.1139 None gnomAD-4.0.0 6.84277E-07
30288 65 N/T 96 rs763525672 0.7692 None gnomAD-2.1.1 3.22E-05
30288 65 N/T 96 rs763525672 0.7692 None gnomAD-3.1.2 6.57E-06
30288 65 N/T 96 rs763525672 0.7692 None gnomAD-4.0.0 1.0536E-05
30289 66 L/P 97 rs1338109334 0.1206 None gnomAD-2.1.1 4.02E-06
30289 66 L/P 97 rs1338109334 0.1206 None gnomAD-4.0.0 1.59187E-06
30290 67 V/G 98 None 0.5529 None gnomAD-4.0.0 1.59208E-06
30291 68 K/R 99 rs1575514675 0.5774 None gnomAD-4.0.0 1.59207E-06
30292 69 D/N 100 None 0.5321 None gnomAD-4.0.0 1.5922E-06
30293 70 A/S 102 rs1299709858 0.1624 None gnomAD-2.1.1 4.03E-06
30293 70 A/S 102 rs1299709858 0.1624 None gnomAD-4.0.0 6.84483E-07
30293 70 A/T 102 rs1299709858 0.1624 None gnomAD-3.1.2 6.57E-06
30293 70 A/T 102 rs1299709858 0.1624 None gnomAD-4.0.0 2.47966E-06
30294 71 E/A 103 None 0.4438 None gnomAD-4.0.0 1.59281E-06
30294 71 E/D 103 None 0.4438 None gnomAD-4.0.0 2.05356E-06
30295 72 Y/C 104 rs369202604 0.1027 None gnomAD-3.1.2 6.57E-06
30295 72 Y/C 104 rs369202604 0.1027 None gnomAD-4.0.0 3.04481E-06
30296 73 Q/P 105 None 0.1662 None gnomAD-4.0.0 1.59307E-06
30297 74 F/L 106 rs774830322 0.1120 None gnomAD-2.1.1 4.03E-06
30297 74 F/L 106 rs774830322 0.1120 None gnomAD-4.0.0 1.59342E-06
30298 75 R/G 107 None 0.1191 None gnomAD-4.0.0 1.20032E-06
30298 75 R/S 107 rs751088273 0.1191 None gnomAD-4.0.0 3.60097E-06
30298 75 R/T 107 rs767538180 0.1191 None gnomAD-2.1.1 4.03E-06
30298 75 R/T 107 rs767538180 0.1191 None gnomAD-4.0.0 1.36941E-06
30299 76 V/L 108 rs774161568 0.0945 None gnomAD-2.1.1 1.43E-05
30299 76 V/L 108 rs774161568 0.0945 None gnomAD-3.1.2 1.31E-05
30299 76 V/L 108 rs774161568 0.0945 None gnomAD-4.0.0 6.4142E-06
30300 77 R/S 109 rs770641872 0.1584 None gnomAD-2.1.1 1.21E-05
30300 77 R/S 109 rs770641872 0.1584 None gnomAD-3.1.2 6.57E-06
30300 77 R/S 109 rs770641872 0.1584 None gnomAD-4.0.0 9.30661E-06
30302 79 E/K 111 rs1553538924 0.3774 None gnomAD-4.0.0 2.40064E-06
30303 80 N/D 112 rs749521838 0.0917 None gnomAD-2.1.1 4.03E-06
30303 80 N/D 112 rs749521838 0.0917 None gnomAD-4.0.0 1.59587E-06
30303 80 N/I 112 None 0.0917 None gnomAD-4.0.0 1.20032E-06
30304 81 R/G 113 None 0.4993 None gnomAD-4.0.0 3.19291E-06
30305 82 Y/H 114 rs544353741 0.2428 None gnomAD-2.1.1 1.44928E-04
30305 82 Y/H 114 rs544353741 0.2428 None gnomAD-3.1.2 1.11758E-04
30305 82 Y/H 114 rs544353741 0.2428 None 1000 genomes 1.39776E-03
30305 82 Y/H 114 rs544353741 0.2428 None gnomAD-4.0.0 7.32062E-05
30306 83 G/R 115 rs267599029 0.1800 None gnomAD-2.1.1 2.42E-05
30306 83 G/R 115 rs267599029 0.1800 None gnomAD-4.0.0 6.85163E-07
30307 84 V/D 117 rs1452208068 0.3891 None gnomAD-2.1.1 4.02E-06
30307 84 V/D 117 rs1452208068 0.3891 None gnomAD-4.0.0 1.59722E-06
30308 85 S/C 118 None 0.0850 None gnomAD-4.0.0 1.59636E-06
30308 85 S/N 118 rs747482598 0.0850 None gnomAD-2.1.1 6.84E-05
30308 85 S/N 118 rs747482598 0.0850 None gnomAD-3.1.2 1.97E-05
30308 85 S/N 118 rs747482598 0.0850 None gnomAD-4.0.0 2.54413E-05
30308 85 S/R 118 rs755569117 0.0850 None gnomAD-2.1.1 4.02E-06
30309 86 Q/K 119 rs990620732 0.6501 None gnomAD-3.1.2 6.58E-06
30309 86 Q/K 119 rs990620732 0.6501 None gnomAD-4.0.0 6.57704E-06
30310 87 P/L 120 None 0.2680 None gnomAD-4.0.0 1.59631E-06
30312 89 V/D 122 None 0.3125 None gnomAD-4.0.0 1.59565E-06
30312 89 V/F 122 rs750742292 0.3125 None gnomAD-2.1.1 1.07E-05
30312 89 V/F 122 rs750742292 0.3125 None gnomAD-3.1.2 3.29E-05
30312 89 V/F 122 rs750742292 0.3125 None gnomAD-4.0.0 4.34279E-06
30312 89 V/I 122 rs750742292 0.3125 None gnomAD-2.1.1 1.21E-05
30312 89 V/I 122 rs750742292 0.3125 None gnomAD-4.0.0 2.74019E-06
30314 91 S/G 124 None 0.4673 None gnomAD-4.0.0 1.59504E-06
30314 91 S/R 124 rs927742381 0.4673 None gnomAD-3.1.2 6.57E-06
30314 91 S/R 124 rs927742381 0.4673 None gnomAD-4.0.0 6.57419E-06
30314 91 S/T 124 rs763875418 0.4673 None gnomAD-2.1.1 4.02E-06
30314 91 S/T 124 rs763875418 0.4673 None gnomAD-4.0.0 3.19001E-06
30315 92 I/T 126 rs755698637 0.4862 None gnomAD-2.1.1 4.02E-06
30315 92 I/T 126 rs755698637 0.4862 None gnomAD-4.0.0 2.73899E-06
30316 93 I/N 127 rs140531141 0.1175 None gnomAD-3.1.2 6.57E-06
30316 93 I/N 127 rs140531141 0.1175 None gnomAD-4.0.0 1.24018E-06
30316 93 I/T 127 rs140531141 0.1175 None gnomAD-2.1.1 2.01E-05
30316 93 I/T 127 rs140531141 0.1175 None gnomAD-3.1.2 1.97E-05
30316 93 I/T 127 rs140531141 0.1175 None 1000 genomes 3.99361E-04
30316 93 I/T 127 rs140531141 0.1175 None gnomAD-4.0.0 4.3403E-06
30316 93 I/V 127 None 0.1175 None gnomAD-4.0.0 3.60097E-06
30317 94 V/A 128 rs759474127 0.3907 None gnomAD-2.1.1 3.57E-05
30317 94 V/A 128 rs759474127 0.3907 None gnomAD-3.1.2 8.54E-05
30317 94 V/A 128 rs759474127 0.3907 None gnomAD-4.0.0 2.04631E-05
30317 94 V/E 128 rs759474127 0.3907 None gnomAD-2.1.1 1.61E-05
30317 94 V/E 128 rs759474127 0.3907 None gnomAD-4.0.0 8.90109E-06
30318 95 A/G 130 rs774212641 0.0724 None gnomAD-2.1.1 4.02E-06
30318 95 A/G 130 rs774212641 0.0724 None gnomAD-4.0.0 3.18606E-06
30319 96 K/N 131 rs1171847318 0.4893 None gnomAD-4.0.0 1.59299E-06
30320 97 H/R 132 rs1244743041 0.5494 None gnomAD-3.1.2 1.31E-05
30320 97 H/R 132 rs1244743041 0.5494 None gnomAD-4.0.0 6.19918E-06