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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

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 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 1000 genomes 1.99681E-04
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/I 8 None 0.1491 None gnomAD-4.0.0 1.20032E-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/V 8 None 0.1491 None gnomAD-4.0.0 2.73991E-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/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
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
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/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
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/T 26 None 0.4721 None gnomAD-4.0.0 1.59213E-06
33118 18 A/S 28 rs1403450047 0.1820 None gnomAD-2.1.1 4.03E-06
33118 18 A/T 28 None 0.1820 None gnomAD-4.0.0 1.59217E-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/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
33136 36 R/K 50 None 0.1271 None gnomAD-4.0.0 3.18288E-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/G 56 None 0.2923 None gnomAD-4.0.0 1.36846E-06
33140 40 E/K 56 None 0.2923 None gnomAD-4.0.0 6.84232E-07
33140 40 E/Q 56 None 0.2923 None gnomAD-4.0.0 6.84232E-07
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/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
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/R 70 None 0.3719 None gnomAD-4.0.0 1.59139E-06
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 1000 genomes 1.99681E-04
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 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 1000 genomes 5.99042E-04
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/I 140 rs794729553 0.1194 None gnomAD-4.0.0 2.73691E-06
33160 60 V/L 140 None 0.1194 None gnomAD-4.0.0 2.73691E-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
33161 61 M/T 141 None 0.3998 None gnomAD-4.0.0 1.20032E-06
33161 61 M/V 141 rs910034354 0.3998 None gnomAD-4.0.0 1.59133E-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 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 1000 genomes 1.99681E-04
33171 71 Y/H 154 rs532644861 0.1427 None gnomAD-4.0.0 6.56607E-06
33172 72 T/I 155 None 0.2103 None gnomAD-4.0.0 6.84231E-07
33172 72 T/S 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/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
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/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/G 163 rs576759867 0.8619 None gnomAD-4.0.0 6.84213E-07
33179 79 V/I 163 rs1452847129 0.8619 None gnomAD-2.1.1 4.02E-06
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 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 1000 genomes 1.99681E-04
33187 87 K/T 173 rs560306385 0.6079 None gnomAD-4.0.0 3.40821E-05