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

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
33101 1 P/L 1 None 0.2482 None gnomAD-4.0.0 1.60306E-06
33102 2 G/E 2 rs751364205 0.2665 None gnomAD-2.1.1 4.11E-06
33102 2 G/E 2 rs751364205 0.2665 None gnomAD-3.1.2 6.57E-06
33102 2 G/E 2 rs751364205 0.2665 None gnomAD-4.0.0 5.59203E-06
33102 2 G/R 2 rs548615687 0.2665 None 1000 genomes 1.99681E-04
33102 2 G/R 2 rs548615687 0.2665 None gnomAD-2.1.1 3.18E-05
33102 2 G/R 2 rs548615687 0.2665 None gnomAD-3.1.2 6.57E-06
33102 2 G/R 2 rs548615687 0.2665 None gnomAD-4.0.0 2.48548E-06
33103 3 I/K 3 rs1251000688 0.2592 None gnomAD-2.1.1 4.09E-06
33103 3 I/K 3 rs1251000688 0.2592 None gnomAD-3.1.2 1.97E-05
33103 3 I/K 3 rs1251000688 0.2592 None gnomAD-4.0.0 1.97153E-05
33103 3 I/L 3 rs1490474972 0.2592 None gnomAD-2.1.1 4.09E-06
33104 4 R/C 4 rs766169253 0.6021 None gnomAD-2.1.1 2.86E-05
33104 4 R/C 4 rs766169253 0.6021 None gnomAD-3.1.2 3.29E-05
33104 4 R/C 4 rs766169253 0.6021 None gnomAD-4.0.0 4.40852E-05
33104 4 R/H 4 rs758617553 0.6021 None gnomAD-2.1.1 1.09E-05
33104 4 R/H 4 rs758617553 0.6021 None gnomAD-3.1.2 6.57E-06
33104 4 R/H 4 rs758617553 0.6021 None gnomAD-4.0.0 6.82943E-06
33104 4 R/L 4 rs758617553 0.6021 None gnomAD-3.1.2 6.57E-06
33104 4 R/L 4 rs758617553 0.6021 None gnomAD-4.0.0 6.57471E-06
33105 5 K/I 5 rs1196579817 0.5882 None gnomAD-2.1.1 4.07E-06
33105 5 K/I 5 rs1196579817 0.5882 None gnomAD-3.1.2 6.57E-06
33105 5 K/I 5 rs1196579817 0.5882 None gnomAD-4.0.0 2.56885E-06
33106 6 E/K 7 None 0.7262 None gnomAD-4.0.0 6.85091E-07
33107 7 M/V 8 None 0.1238 None gnomAD-4.0.0 2.73991E-06
33107 7 M/T 8 rs942438397 0.1238 None gnomAD-3.1.2 1.31E-05
33107 7 M/T 8 rs942438397 0.1238 None gnomAD-4.0.0 5.07487E-06
33107 7 M/I 8 None 0.1238 None gnomAD-4.0.0 1.20032E-06
33108 8 K/N 9 rs1281729370 0.8408 None gnomAD-2.1.1 4.05E-06
33108 8 K/N 9 rs1281729370 0.8408 None gnomAD-4.0.0 1.59466E-06
33109 9 D/G 11 rs1481058510 0.4790 None gnomAD-2.1.1 3.18E-05
33109 9 D/G 11 rs1481058510 0.4790 None gnomAD-3.1.2 6.57E-06
33109 9 D/G 11 rs1481058510 0.4790 None gnomAD-4.0.0 6.57047E-06
33109 9 D/N 11 None 0.4790 None gnomAD-4.0.0 1.20032E-06
33110 10 V/I 13 rs765303215 0.2542 None gnomAD-2.1.1 4.04E-06
33110 10 V/I 13 rs765303215 0.2542 None gnomAD-4.0.0 1.59338E-06
33112 12 T/K 16 rs374883160 0.1517 None gnomAD-2.1.1 3.23E-05
33112 12 T/K 16 rs374883160 0.1517 None gnomAD-3.1.2 3.94E-05
33112 12 T/K 16 rs374883160 0.1517 None gnomAD-4.0.0 4.02945E-05
33112 12 T/A 16 rs761837150 0.1517 None gnomAD-2.1.1 4.04E-06
33112 12 T/A 16 rs761837150 0.1517 None gnomAD-4.0.0 1.5927E-06
33113 13 K/E 18 None 0.5209 None gnomAD-4.0.0 1.20032E-06
33114 14 L/F 23 rs1203503394 0.3422 None gnomAD-2.1.1 3.18E-05
33114 14 L/F 23 rs1203503394 0.3422 None gnomAD-3.1.2 1.31E-05
33114 14 L/F 23 rs1203503394 0.3422 None gnomAD-4.0.0 3.84546E-06
33115 15 G/D 24 rs879247634 0.4205 None gnomAD-2.1.1 7.16E-06
33115 15 G/D 24 rs879247634 0.4205 None gnomAD-3.1.2 2.63E-05
33115 15 G/D 24 rs879247634 0.4205 None gnomAD-4.0.0 7.69039E-06
33117 17 A/T 26 None 0.4348 None gnomAD-4.0.0 1.59213E-06
33117 17 A/S 26 rs878926959 0.4348 None gnomAD-2.1.1 4.03E-06
33117 17 A/S 26 rs878926959 0.4348 None gnomAD-4.0.0 1.59213E-06
33117 17 A/P 26 rs878926959 0.4348 None gnomAD-3.1.2 6.57E-06
33117 17 A/P 26 rs878926959 0.4348 None gnomAD-4.0.0 6.57134E-06
33118 18 A/T 28 None 0.1506 None gnomAD-4.0.0 1.59217E-06
33118 18 A/S 28 rs1403450047 0.1506 None gnomAD-2.1.1 4.03E-06
33119 19 Q/R 29 rs775783429 0.6411 None gnomAD-2.1.1 2.42E-05
33119 19 Q/R 29 rs775783429 0.6411 None gnomAD-4.0.0 2.06933E-05
33120 20 L/F 30 rs772473414 0.1202 None gnomAD-2.1.1 2.14E-05
33120 20 L/F 30 rs772473414 0.1202 None gnomAD-3.1.2 3.29E-05
33120 20 L/F 30 rs772473414 0.1202 None gnomAD-4.0.0 1.1156E-05
33122 22 C/F 33 rs1692294550 0.1069 None gnomAD-4.0.0 4.77517E-06
33122 22 C/R 33 None 0.1069 None gnomAD-4.0.0 1.20032E-06
33124 24 I/T 35 rs1460988809 0.1245 None gnomAD-2.1.1 4.02E-06
33124 24 I/T 35 rs1460988809 0.1245 None gnomAD-4.0.0 2.73708E-06
33125 25 V/L 38 rs1692289481 0.3508 None gnomAD-4.0.0 3.18323E-06
33126 26 G/E 40 rs772933494 0.2447 None gnomAD-2.1.1 4.02E-06
33126 26 G/E 40 rs772933494 0.2447 None gnomAD-4.0.0 1.36855E-06
33127 27 R/K 41 rs1205888266 0.9529 None gnomAD-2.1.1 4.02E-06
33127 27 R/K 41 rs1205888266 0.9529 None gnomAD-4.0.0 1.59159E-06
33127 27 R/S 41 rs747615650 0.9529 None gnomAD-2.1.1 8.05E-06
33127 27 R/S 41 rs747615650 0.9529 None gnomAD-3.1.2 6.57E-06
33127 27 R/S 41 rs747615650 0.9529 None gnomAD-4.0.0 3.0988E-06
33128 28 P/H 42 rs1457575286 0.4965 None gnomAD-3.1.2 6.57E-06
33128 28 P/H 42 rs1457575286 0.4965 None gnomAD-4.0.0 6.5735E-06
33128 28 P/L 42 None 0.4965 None gnomAD-4.0.0 1.20032E-06
33130 30 P/S 44 rs1692281859 0.2059 None gnomAD-4.0.0 1.59158E-06
33132 32 I/L 46 rs780831102 0.2268 None gnomAD-2.1.1 4.02E-06
33132 32 I/L 46 rs780831102 0.2268 None gnomAD-4.0.0 5.47402E-06
33133 33 K/T 47 rs794729552 0.3235 None gnomAD-4.0.0 1.59145E-06
33134 34 W/C 48 rs1222519078 0.1479 None gnomAD-2.1.1 4.02E-06
33134 34 W/C 48 rs1222519078 0.1479 None gnomAD-4.0.0 6.84244E-07
33134 34 W/R 48 None 0.1479 None gnomAD-4.0.0 1.20032E-06
33134 34 W/S 48 None 0.1479 None gnomAD-4.0.0 1.59151E-06
33136 36 R/K 50 None 0.1204 None gnomAD-4.0.0 3.18288E-06
33136 36 R/G 50 rs746964527 0.1204 None gnomAD-2.1.1 2.01E-05
33136 36 R/G 50 rs746964527 0.1204 None gnomAD-3.1.2 6.57E-06
33136 36 R/G 50 rs746964527 0.1204 None gnomAD-4.0.0 6.19709E-06
33139 39 K/E 55 rs779723670 0.7520 None gnomAD-2.1.1 1.61E-05
33139 39 K/E 55 rs779723670 0.7520 None gnomAD-3.1.2 1.97E-05
33139 39 K/E 55 rs779723670 0.7520 None gnomAD-4.0.0 2.41682E-05
33140 40 E/Q 56 None 0.3137 None gnomAD-4.0.0 6.84232E-07
33140 40 E/K 56 None 0.3137 None gnomAD-4.0.0 6.84232E-07
33140 40 E/G 56 None 0.3137 None gnomAD-4.0.0 1.36846E-06
33141 41 L/F 58 rs886039134 0.1563 None gnomAD-4.0.0 1.20032E-06
33142 42 I/T 59 rs1338367198 0.8474 None gnomAD-4.0.0 1.59137E-06
33143 43 Q/R 70 None 0.3674 None gnomAD-4.0.0 1.59139E-06
33143 43 Q/K 70 rs1380008073 0.3674 None gnomAD-2.1.1 4.02E-06
33143 43 Q/K 70 rs1380008073 0.3674 None gnomAD-3.1.2 6.57E-06
33143 43 Q/K 70 rs1380008073 0.3674 None gnomAD-4.0.0 1.23948E-05
33143 43 Q/E 70 rs1380008073 0.3674 None gnomAD-3.1.2 6.57E-06
33143 43 Q/E 70 rs1380008073 0.3674 None gnomAD-4.0.0 4.33816E-06
33145 45 R/Q 111 rs371531675 1.0179 None 1000 genomes 1.99681E-04
33145 45 R/Q 111 rs371531675 1.0179 None gnomAD-2.1.1 4.28E-05
33145 45 R/Q 111 rs371531675 1.0179 None gnomAD-3.1.2 6.58E-05
33145 45 R/Q 111 rs371531675 1.0179 None gnomAD-4.0.0 4.58588E-05
33145 45 R/W 111 rs1338284042 1.0179 None gnomAD-2.1.1 4.02E-06
33145 45 R/W 111 rs1338284042 1.0179 None gnomAD-4.0.0 5.47384E-06
33148 48 K/N 122 None 0.6616 None gnomAD-4.0.0 1.59135E-06
33149 49 M/T 123 rs750670014 0.1979 None gnomAD-2.1.1 8.03E-06
33149 49 M/T 123 rs750670014 0.1979 None gnomAD-4.0.0 4.77404E-06
33150 50 S/P 125 rs779055111 0.4981 None gnomAD-2.1.1 4.02E-06
33150 50 S/P 125 rs779055111 0.4981 None gnomAD-3.1.2 6.57E-06
33150 50 S/P 125 rs779055111 0.4981 None gnomAD-4.0.0 6.57445E-06
33153 53 G/R 131 None 0.4492 None gnomAD-4.0.0 5.47378E-06
33154 54 R/C 134 rs143556947 0.5038 None 1000 genomes 5.99042E-04
33154 54 R/C 134 rs143556947 0.5038 None gnomAD-2.1.1 3.21E-05
33154 54 R/C 134 rs143556947 0.5038 None gnomAD-3.1.2 9.21E-05
33154 54 R/C 134 rs143556947 0.5038 None gnomAD-4.0.0 2.23089E-05
33154 54 R/G 134 rs143556947 0.5038 None gnomAD-2.1.1 4.01E-06
33154 54 R/G 134 rs143556947 0.5038 None gnomAD-4.0.0 4.10532E-06
33154 54 R/H 134 rs753958605 0.5038 None gnomAD-2.1.1 2.01E-05
33154 54 R/H 134 rs753958605 0.5038 None gnomAD-3.1.2 6.57E-06
33154 54 R/H 134 rs753958605 0.5038 None gnomAD-4.0.0 6.19728E-06
33155 55 T/A 135 rs1692258849 0.2487 None gnomAD-4.0.0 3.18264E-06
33155 55 T/I 135 rs1179270927 0.2487 None gnomAD-2.1.1 4.01E-06
33155 55 T/I 135 rs1179270927 0.2487 None gnomAD-4.0.0 2.05265E-06
33156 56 H/N 136 rs374666520 0.1500 None gnomAD-4.0.0 6.84226E-07
33156 56 H/R 136 rs1375140267 0.1500 None gnomAD-2.1.1 3.18E-05
33156 56 H/Y 136 rs374666520 0.1500 None gnomAD-2.1.1 2.01E-05
33156 56 H/Y 136 rs374666520 0.1500 None gnomAD-3.1.2 1.31E-05
33156 56 H/Y 136 rs374666520 0.1500 None gnomAD-4.0.0 4.0901E-05
33160 60 V/L 140 None 0.1005 None gnomAD-4.0.0 2.73691E-06
33160 60 V/I 140 rs794729553 0.1005 None gnomAD-4.0.0 2.73691E-06
33161 61 M/V 141 rs910034354 0.3869 None gnomAD-4.0.0 1.59133E-06
33161 61 M/T 141 None 0.3869 None gnomAD-4.0.0 1.20032E-06
33161 61 M/I 141 rs1190762492 0.3869 None gnomAD-3.1.2 6.57E-06
33161 61 M/I 141 rs1190762492 0.3869 None gnomAD-4.0.0 1.59134E-06
33162 62 T/I 143 None 0.1177 None gnomAD-4.0.0 6.84224E-07
33164 64 E/Q 145 rs753191182 0.4913 None gnomAD-2.1.1 1.07E-05
33164 64 E/Q 145 rs753191182 0.4913 None gnomAD-4.0.0 6.84223E-07
33166 66 E/G 148 None 0.2852 None gnomAD-4.0.0 1.59131E-06
33169 69 G/A 152 rs1692241113 0.2072 None gnomAD-3.1.2 6.57E-06
33169 69 G/A 152 rs1692241113 0.2072 None gnomAD-4.0.0 1.23941E-06
33171 71 Y/H 154 rs532644861 0.1171 None 1000 genomes 1.99681E-04
33171 71 Y/H 154 rs532644861 0.1171 None gnomAD-2.1.1 4.02E-06
33171 71 Y/H 154 rs532644861 0.1171 None gnomAD-3.1.2 6.57E-06
33171 71 Y/H 154 rs532644861 0.1171 None gnomAD-4.0.0 6.56607E-06
33172 72 T/S 155 None 0.1971 None gnomAD-4.0.0 6.84231E-07
33172 72 T/I 155 None 0.1971 None gnomAD-4.0.0 6.84231E-07
33173 73 C/S 156 rs773021609 0.0861 None gnomAD-2.1.1 4.02E-06
33173 73 C/S 156 rs773021609 0.0861 None gnomAD-3.1.2 5.26E-05
33173 73 C/S 156 rs773021609 0.0861 None gnomAD-4.0.0 1.92162E-05
33173 73 C/Y 156 rs761362832 0.0861 None gnomAD-2.1.1 5.22E-05
33173 73 C/Y 156 rs761362832 0.0861 None gnomAD-3.1.2 2.63E-05
33173 73 C/Y 156 rs761362832 0.0861 None gnomAD-4.0.0 2.72678E-05
33174 74 I/T 157 rs879116103 0.2058 None gnomAD-2.1.1 1.43E-05
33174 74 I/T 157 rs879116103 0.2058 None gnomAD-3.1.2 3.29E-05
33174 74 I/T 157 rs879116103 0.2058 None gnomAD-4.0.0 6.197E-06
33176 76 T/I 159 None 0.3285 None gnomAD-4.0.0 6.84222E-07
33177 77 N/H 161 None 0.1462 None gnomAD-4.0.0 1.59132E-06
33177 77 N/S 161 rs761530189 0.1462 None gnomAD-2.1.1 4.02E-06
33177 77 N/S 161 rs761530189 0.1462 None gnomAD-3.1.2 6.57E-06
33177 77 N/S 161 rs761530189 0.1462 None gnomAD-4.0.0 7.43634E-06
33178 78 E/K 162 rs371017136 0.9205 None gnomAD-2.1.1 7.13E-06
33178 78 E/K 162 rs371017136 0.9205 None gnomAD-3.1.2 1.97E-05
33178 78 E/K 162 rs371017136 0.9205 None gnomAD-4.0.0 1.97122E-05
33179 79 V/I 163 rs1452847129 0.8440 None gnomAD-2.1.1 4.02E-06
33179 79 V/G 163 rs576759867 0.8440 None gnomAD-4.0.0 6.84213E-07
33179 79 V/F 163 rs1452847129 0.8440 None gnomAD-3.1.2 6.57E-06
33179 79 V/F 163 rs1452847129 0.8440 None gnomAD-4.0.0 6.57177E-06
33179 79 V/D 163 None 0.8440 None gnomAD-2.1.1 2.81E-05
33179 79 V/D 163 None 0.8440 None gnomAD-3.1.2 6.57E-06
33179 79 V/D 163 None 0.8440 None gnomAD-4.0.0 4.95777E-06
33179 79 V/A 163 rs576759867 0.8440 None gnomAD-2.1.1 6.06E-05
33179 79 V/A 163 rs576759867 0.8440 None gnomAD-3.1.2 1.97E-05
33179 79 V/A 163 rs576759867 0.8440 None gnomAD-4.0.0 2.97466E-05
33180 80 G/R 164 None 0.2657 None gnomAD-4.0.0 2.40064E-06
33182 82 V/I 166 rs1060500530 0.2472 None gnomAD-2.1.1 3.19E-05
33182 82 V/I 166 rs1060500530 0.2472 None gnomAD-3.1.2 6.57E-06
33182 82 V/I 166 rs1060500530 0.2472 None gnomAD-4.0.0 2.47879E-06
33183 83 E/D 168 None 0.6316 None gnomAD-4.0.0 1.59128E-06
33185 85 S/N 171 rs1377798768 0.3489 None gnomAD-3.1.2 6.57E-06
33185 85 S/N 171 rs1377798768 0.3489 None gnomAD-4.0.0 3.71827E-06
33185 85 S/R 171 None 0.3489 None gnomAD-4.0.0 1.59134E-06
33186 86 S/G 172 rs1198186808 0.1228 None gnomAD-2.1.1 3.19E-05
33186 86 S/G 172 rs1198186808 0.1228 None gnomAD-3.1.2 6.57E-06
33186 86 S/G 172 rs1198186808 0.1228 None gnomAD-4.0.0 6.57108E-06
33186 86 S/N 172 None 0.1228 None gnomAD-4.0.0 1.59137E-06
33187 87 K/R 173 rs560306385 0.5564 None gnomAD-2.1.1 4.02E-06
33187 87 K/R 173 rs560306385 0.5564 None gnomAD-4.0.0 6.84231E-07
33187 87 K/T 173 rs560306385 0.5564 None 1000 genomes 1.99681E-04
33187 87 K/T 173 rs560306385 0.5564 None gnomAD-2.1.1 4.28E-05
33187 87 K/T 173 rs560306385 0.5564 None gnomAD-3.1.2 1.97187E-04
33187 87 K/T 173 rs560306385 0.5564 None gnomAD-4.0.0 3.40821E-05