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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 0.3156 None gnomAD-4.0.0 1.60306E-06
33102 2 G/E 2 rs751364205 0.2836 None gnomAD-2.1.1 4.11E-06
33102 2 G/E 2 rs751364205 0.2836 None gnomAD-3.1.2 6.57E-06
33102 2 G/E 2 rs751364205 0.2836 None gnomAD-4.0.0 5.59203E-06
33102 2 G/R 2 rs548615687 0.2836 None 1000 genomes 1.99681E-04
33102 2 G/R 2 rs548615687 0.2836 None gnomAD-2.1.1 3.18E-05
33102 2 G/R 2 rs548615687 0.2836 None gnomAD-3.1.2 6.57E-06
33102 2 G/R 2 rs548615687 0.2836 None gnomAD-4.0.0 2.48548E-06
33103 3 I/K 3 rs1251000688 0.3029 None gnomAD-2.1.1 4.09E-06
33103 3 I/K 3 rs1251000688 0.3029 None gnomAD-3.1.2 1.97E-05
33103 3 I/K 3 rs1251000688 0.3029 None gnomAD-4.0.0 1.97153E-05
33103 3 I/L 3 rs1490474972 0.3029 None gnomAD-2.1.1 4.09E-06
33104 4 R/C 4 rs766169253 0.6642 None gnomAD-2.1.1 2.86E-05
33104 4 R/C 4 rs766169253 0.6642 None gnomAD-3.1.2 3.29E-05
33104 4 R/C 4 rs766169253 0.6642 None gnomAD-4.0.0 4.40852E-05
33104 4 R/H 4 rs758617553 0.6642 None gnomAD-2.1.1 1.09E-05
33104 4 R/H 4 rs758617553 0.6642 None gnomAD-3.1.2 6.57E-06
33104 4 R/H 4 rs758617553 0.6642 None gnomAD-4.0.0 6.82943E-06
33104 4 R/L 4 rs758617553 0.6642 None gnomAD-3.1.2 6.57E-06
33104 4 R/L 4 rs758617553 0.6642 None gnomAD-4.0.0 6.57471E-06
33105 5 K/I 5 rs1196579817 0.5935 None gnomAD-2.1.1 4.07E-06
33105 5 K/I 5 rs1196579817 0.5935 None gnomAD-3.1.2 6.57E-06
33105 5 K/I 5 rs1196579817 0.5935 None gnomAD-4.0.0 2.56885E-06
33106 6 E/K 7 None 0.7681 None gnomAD-4.0.0 6.85091E-07
33107 7 M/V 8 None 0.1491 None gnomAD-4.0.0 2.73991E-06
33107 7 M/T 8 rs942438397 0.1491 None gnomAD-3.1.2 1.31E-05
33107 7 M/T 8 rs942438397 0.1491 None gnomAD-4.0.0 5.07487E-06
33107 7 M/I 8 None 0.1491 None gnomAD-4.0.0 1.20032E-06
33108 8 K/N 9 rs1281729370 0.8593 None gnomAD-2.1.1 4.05E-06
33108 8 K/N 9 rs1281729370 0.8593 None gnomAD-4.0.0 1.59466E-06
33109 9 D/G 11 rs1481058510 0.5510 None gnomAD-2.1.1 3.18E-05
33109 9 D/G 11 rs1481058510 0.5510 None gnomAD-3.1.2 6.57E-06
33109 9 D/G 11 rs1481058510 0.5510 None gnomAD-4.0.0 6.57047E-06
33109 9 D/N 11 None 0.5510 None gnomAD-4.0.0 1.20032E-06
33110 10 V/I 13 rs765303215 0.3063 None gnomAD-2.1.1 4.04E-06
33110 10 V/I 13 rs765303215 0.3063 None gnomAD-4.0.0 1.59338E-06
33112 12 T/K 16 rs374883160 0.1681 None gnomAD-2.1.1 3.23E-05
33112 12 T/K 16 rs374883160 0.1681 None gnomAD-3.1.2 3.94E-05
33112 12 T/K 16 rs374883160 0.1681 None gnomAD-4.0.0 4.02945E-05
33112 12 T/A 16 rs761837150 0.1681 None gnomAD-2.1.1 4.04E-06
33112 12 T/A 16 rs761837150 0.1681 None gnomAD-4.0.0 1.5927E-06
33113 13 K/E 18 None 0.5353 None gnomAD-4.0.0 1.20032E-06
33114 14 L/F 23 rs1203503394 0.3631 None gnomAD-2.1.1 3.18E-05
33114 14 L/F 23 rs1203503394 0.3631 None gnomAD-3.1.2 1.31E-05
33114 14 L/F 23 rs1203503394 0.3631 None gnomAD-4.0.0 3.84546E-06
33115 15 G/D 24 rs879247634 0.4422 None gnomAD-2.1.1 7.16E-06
33115 15 G/D 24 rs879247634 0.4422 None gnomAD-3.1.2 2.63E-05
33115 15 G/D 24 rs879247634 0.4422 None gnomAD-4.0.0 7.69039E-06
33117 17 A/T 26 None 0.4721 None gnomAD-4.0.0 1.59213E-06
33117 17 A/S 26 rs878926959 0.4721 None gnomAD-2.1.1 4.03E-06
33117 17 A/S 26 rs878926959 0.4721 None gnomAD-4.0.0 1.59213E-06
33117 17 A/P 26 rs878926959 0.4721 None gnomAD-3.1.2 6.57E-06
33117 17 A/P 26 rs878926959 0.4721 None gnomAD-4.0.0 6.57134E-06
33118 18 A/T 28 None 0.1820 None gnomAD-4.0.0 1.59217E-06
33118 18 A/S 28 rs1403450047 0.1820 None gnomAD-2.1.1 4.03E-06
33119 19 Q/R 29 rs775783429 0.6838 None gnomAD-2.1.1 2.42E-05
33119 19 Q/R 29 rs775783429 0.6838 None gnomAD-4.0.0 2.06933E-05
33120 20 L/F 30 rs772473414 0.1663 None gnomAD-2.1.1 2.14E-05
33120 20 L/F 30 rs772473414 0.1663 None gnomAD-3.1.2 3.29E-05
33120 20 L/F 30 rs772473414 0.1663 None gnomAD-4.0.0 1.1156E-05
33122 22 C/F 33 rs1692294550 0.1234 None gnomAD-4.0.0 4.77517E-06
33122 22 C/R 33 None 0.1234 None gnomAD-4.0.0 1.20032E-06
33124 24 I/T 35 rs1460988809 0.1491 None gnomAD-2.1.1 4.02E-06
33124 24 I/T 35 rs1460988809 0.1491 None gnomAD-4.0.0 2.73708E-06
33125 25 V/L 38 rs1692289481 0.4008 None gnomAD-4.0.0 3.18323E-06
33126 26 G/E 40 rs772933494 0.2473 None gnomAD-2.1.1 4.02E-06
33126 26 G/E 40 rs772933494 0.2473 None gnomAD-4.0.0 1.36855E-06
33127 27 R/K 41 rs1205888266 0.9552 None gnomAD-2.1.1 4.02E-06
33127 27 R/K 41 rs1205888266 0.9552 None gnomAD-4.0.0 1.59159E-06
33127 27 R/S 41 rs747615650 0.9552 None gnomAD-2.1.1 8.05E-06
33127 27 R/S 41 rs747615650 0.9552 None gnomAD-3.1.2 6.57E-06
33127 27 R/S 41 rs747615650 0.9552 None gnomAD-4.0.0 3.0988E-06
33128 28 P/H 42 rs1457575286 0.4857 None gnomAD-3.1.2 6.57E-06
33128 28 P/H 42 rs1457575286 0.4857 None gnomAD-4.0.0 6.5735E-06
33128 28 P/L 42 None 0.4857 None gnomAD-4.0.0 1.20032E-06
33130 30 P/S 44 rs1692281859 0.2205 None gnomAD-4.0.0 1.59158E-06
33132 32 I/L 46 rs780831102 0.2511 None gnomAD-2.1.1 4.02E-06
33132 32 I/L 46 rs780831102 0.2511 None gnomAD-4.0.0 5.47402E-06
33133 33 K/T 47 rs794729552 0.3365 None gnomAD-4.0.0 1.59145E-06
33134 34 W/C 48 rs1222519078 0.1640 None gnomAD-2.1.1 4.02E-06
33134 34 W/C 48 rs1222519078 0.1640 None gnomAD-4.0.0 6.84244E-07
33134 34 W/R 48 None 0.1640 None gnomAD-4.0.0 1.20032E-06
33134 34 W/S 48 None 0.1640 None gnomAD-4.0.0 1.59151E-06
33136 36 R/K 50 None 0.1271 None gnomAD-4.0.0 3.18288E-06
33136 36 R/G 50 rs746964527 0.1271 None gnomAD-2.1.1 2.01E-05
33136 36 R/G 50 rs746964527 0.1271 None gnomAD-3.1.2 6.57E-06
33136 36 R/G 50 rs746964527 0.1271 None gnomAD-4.0.0 6.19709E-06
33139 39 K/E 55 rs779723670 0.7488 None gnomAD-2.1.1 1.61E-05
33139 39 K/E 55 rs779723670 0.7488 None gnomAD-3.1.2 1.97E-05
33139 39 K/E 55 rs779723670 0.7488 None gnomAD-4.0.0 2.41682E-05
33140 40 E/Q 56 None 0.2923 None gnomAD-4.0.0 6.84232E-07
33140 40 E/K 56 None 0.2923 None gnomAD-4.0.0 6.84232E-07
33140 40 E/G 56 None 0.2923 None gnomAD-4.0.0 1.36846E-06
33141 41 L/F 58 rs886039134 0.1582 None gnomAD-4.0.0 1.20032E-06
33142 42 I/T 59 rs1338367198 0.8522 None gnomAD-4.0.0 1.59137E-06
33143 43 Q/R 70 None 0.3719 None gnomAD-4.0.0 1.59139E-06
33143 43 Q/K 70 rs1380008073 0.3719 None gnomAD-2.1.1 4.02E-06
33143 43 Q/K 70 rs1380008073 0.3719 None gnomAD-3.1.2 6.57E-06
33143 43 Q/K 70 rs1380008073 0.3719 None gnomAD-4.0.0 1.23948E-05
33143 43 Q/E 70 rs1380008073 0.3719 None gnomAD-3.1.2 6.57E-06
33143 43 Q/E 70 rs1380008073 0.3719 None gnomAD-4.0.0 4.33816E-06
33145 45 R/Q 111 rs371531675 1.0165 None 1000 genomes 1.99681E-04
33145 45 R/Q 111 rs371531675 1.0165 None gnomAD-2.1.1 4.28E-05
33145 45 R/Q 111 rs371531675 1.0165 None gnomAD-3.1.2 6.58E-05
33145 45 R/Q 111 rs371531675 1.0165 None gnomAD-4.0.0 4.58588E-05
33145 45 R/W 111 rs1338284042 1.0165 None gnomAD-2.1.1 4.02E-06
33145 45 R/W 111 rs1338284042 1.0165 None gnomAD-4.0.0 5.47384E-06
33148 48 K/N 122 None 0.6706 None gnomAD-4.0.0 1.59135E-06
33149 49 M/T 123 rs750670014 0.2012 None gnomAD-2.1.1 8.03E-06
33149 49 M/T 123 rs750670014 0.2012 None gnomAD-4.0.0 4.77404E-06
33150 50 S/P 125 rs779055111 0.4988 None gnomAD-2.1.1 4.02E-06
33150 50 S/P 125 rs779055111 0.4988 None gnomAD-3.1.2 6.57E-06
33150 50 S/P 125 rs779055111 0.4988 None gnomAD-4.0.0 6.57445E-06
33153 53 G/R 131 None 0.4900 None gnomAD-4.0.0 5.47378E-06
33154 54 R/C 134 rs143556947 0.5146 None 1000 genomes 5.99042E-04
33154 54 R/C 134 rs143556947 0.5146 None gnomAD-2.1.1 3.21E-05
33154 54 R/C 134 rs143556947 0.5146 None gnomAD-3.1.2 9.21E-05
33154 54 R/C 134 rs143556947 0.5146 None gnomAD-4.0.0 2.23089E-05
33154 54 R/G 134 rs143556947 0.5146 None gnomAD-2.1.1 4.01E-06
33154 54 R/G 134 rs143556947 0.5146 None gnomAD-4.0.0 4.10532E-06
33154 54 R/H 134 rs753958605 0.5146 None gnomAD-2.1.1 2.01E-05
33154 54 R/H 134 rs753958605 0.5146 None gnomAD-3.1.2 6.57E-06
33154 54 R/H 134 rs753958605 0.5146 None gnomAD-4.0.0 6.19728E-06
33155 55 T/A 135 rs1692258849 0.2457 None gnomAD-4.0.0 3.18264E-06
33155 55 T/I 135 rs1179270927 0.2457 None gnomAD-2.1.1 4.01E-06
33155 55 T/I 135 rs1179270927 0.2457 None gnomAD-4.0.0 2.05265E-06
33156 56 H/N 136 rs374666520 0.1587 None gnomAD-4.0.0 6.84226E-07
33156 56 H/R 136 rs1375140267 0.1587 None gnomAD-2.1.1 3.18E-05
33156 56 H/Y 136 rs374666520 0.1587 None gnomAD-2.1.1 2.01E-05
33156 56 H/Y 136 rs374666520 0.1587 None gnomAD-3.1.2 1.31E-05
33156 56 H/Y 136 rs374666520 0.1587 None gnomAD-4.0.0 4.0901E-05
33160 60 V/L 140 None 0.1194 None gnomAD-4.0.0 2.73691E-06
33160 60 V/I 140 rs794729553 0.1194 None gnomAD-4.0.0 2.73691E-06
33161 61 M/V 141 rs910034354 0.3998 None gnomAD-4.0.0 1.59133E-06
33161 61 M/T 141 None 0.3998 None gnomAD-4.0.0 1.20032E-06
33161 61 M/I 141 rs1190762492 0.3998 None gnomAD-3.1.2 6.57E-06
33161 61 M/I 141 rs1190762492 0.3998 None gnomAD-4.0.0 1.59134E-06
33162 62 T/I 143 None 0.1328 None gnomAD-4.0.0 6.84224E-07
33164 64 E/Q 145 rs753191182 0.4406 None gnomAD-2.1.1 1.07E-05
33164 64 E/Q 145 rs753191182 0.4406 None gnomAD-4.0.0 6.84223E-07
33166 66 E/G 148 None 0.2714 None gnomAD-4.0.0 1.59131E-06
33169 69 G/A 152 rs1692241113 0.2225 None gnomAD-3.1.2 6.57E-06
33169 69 G/A 152 rs1692241113 0.2225 None gnomAD-4.0.0 1.23941E-06
33171 71 Y/H 154 rs532644861 0.1427 None 1000 genomes 1.99681E-04
33171 71 Y/H 154 rs532644861 0.1427 None gnomAD-2.1.1 4.02E-06
33171 71 Y/H 154 rs532644861 0.1427 None gnomAD-3.1.2 6.57E-06
33171 71 Y/H 154 rs532644861 0.1427 None gnomAD-4.0.0 6.56607E-06
33172 72 T/S 155 None 0.2103 None gnomAD-4.0.0 6.84231E-07
33172 72 T/I 155 None 0.2103 None gnomAD-4.0.0 6.84231E-07
33173 73 C/S 156 rs773021609 0.0969 None gnomAD-2.1.1 4.02E-06
33173 73 C/S 156 rs773021609 0.0969 None gnomAD-3.1.2 5.26E-05
33173 73 C/S 156 rs773021609 0.0969 None gnomAD-4.0.0 1.92162E-05
33173 73 C/Y 156 rs761362832 0.0969 None gnomAD-2.1.1 5.22E-05
33173 73 C/Y 156 rs761362832 0.0969 None gnomAD-3.1.2 2.63E-05
33173 73 C/Y 156 rs761362832 0.0969 None gnomAD-4.0.0 2.72678E-05
33174 74 I/T 157 rs879116103 0.2276 None gnomAD-2.1.1 1.43E-05
33174 74 I/T 157 rs879116103 0.2276 None gnomAD-3.1.2 3.29E-05
33174 74 I/T 157 rs879116103 0.2276 None gnomAD-4.0.0 6.197E-06
33176 76 T/I 159 None 0.3448 None gnomAD-4.0.0 6.84222E-07
33177 77 N/H 161 None 0.1615 None gnomAD-4.0.0 1.59132E-06
33177 77 N/S 161 rs761530189 0.1615 None gnomAD-2.1.1 4.02E-06
33177 77 N/S 161 rs761530189 0.1615 None gnomAD-3.1.2 6.57E-06
33177 77 N/S 161 rs761530189 0.1615 None gnomAD-4.0.0 7.43634E-06
33178 78 E/K 162 rs371017136 0.8982 None gnomAD-2.1.1 7.13E-06
33178 78 E/K 162 rs371017136 0.8982 None gnomAD-3.1.2 1.97E-05
33178 78 E/K 162 rs371017136 0.8982 None gnomAD-4.0.0 1.97122E-05
33179 79 V/I 163 rs1452847129 0.8619 None gnomAD-2.1.1 4.02E-06
33179 79 V/G 163 rs576759867 0.8619 None gnomAD-4.0.0 6.84213E-07
33179 79 V/F 163 rs1452847129 0.8619 None gnomAD-3.1.2 6.57E-06
33179 79 V/F 163 rs1452847129 0.8619 None gnomAD-4.0.0 6.57177E-06
33179 79 V/D 163 None 0.8619 None gnomAD-2.1.1 2.81E-05
33179 79 V/D 163 None 0.8619 None gnomAD-3.1.2 6.57E-06
33179 79 V/D 163 None 0.8619 None gnomAD-4.0.0 4.95777E-06
33179 79 V/A 163 rs576759867 0.8619 None gnomAD-2.1.1 6.06E-05
33179 79 V/A 163 rs576759867 0.8619 None gnomAD-3.1.2 1.97E-05
33179 79 V/A 163 rs576759867 0.8619 None gnomAD-4.0.0 2.97466E-05
33180 80 G/R 164 None 0.2844 None gnomAD-4.0.0 2.40064E-06
33182 82 V/I 166 rs1060500530 0.2683 None gnomAD-2.1.1 3.19E-05
33182 82 V/I 166 rs1060500530 0.2683 None gnomAD-3.1.2 6.57E-06
33182 82 V/I 166 rs1060500530 0.2683 None gnomAD-4.0.0 2.47879E-06
33183 83 E/D 168 None 0.6816 None gnomAD-4.0.0 1.59128E-06
33185 85 S/N 171 rs1377798768 0.3552 None gnomAD-3.1.2 6.57E-06
33185 85 S/N 171 rs1377798768 0.3552 None gnomAD-4.0.0 3.71827E-06
33185 85 S/R 171 None 0.3552 None gnomAD-4.0.0 1.59134E-06
33186 86 S/G 172 rs1198186808 0.1428 None gnomAD-2.1.1 3.19E-05
33186 86 S/G 172 rs1198186808 0.1428 None gnomAD-3.1.2 6.57E-06
33186 86 S/G 172 rs1198186808 0.1428 None gnomAD-4.0.0 6.57108E-06
33186 86 S/N 172 None 0.1428 None gnomAD-4.0.0 1.59137E-06
33187 87 K/R 173 rs560306385 0.6079 None gnomAD-2.1.1 4.02E-06
33187 87 K/R 173 rs560306385 0.6079 None gnomAD-4.0.0 6.84231E-07
33187 87 K/T 173 rs560306385 0.6079 None 1000 genomes 1.99681E-04
33187 87 K/T 173 rs560306385 0.6079 None gnomAD-2.1.1 4.28E-05
33187 87 K/T 173 rs560306385 0.6079 None gnomAD-3.1.2 1.97187E-04
33187 87 K/T 173 rs560306385 0.6079 None gnomAD-4.0.0 3.40821E-05