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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
8078 1 P/L 1 rs1419971092 0.1474 None gnomAD-3.1.2 6.58E-06
8078 1 P/Q 1 None 0.1474 None gnomAD-4.0.0 1.62111E-06
8078 1 P/R 1 rs1419971092 0.1474 None gnomAD-3.1.2 6.58E-06
8078 1 P/R 1 rs1419971092 0.1474 None gnomAD-4.0.0 6.57704E-06
8078 1 P/S 1 rs750589456 0.1474 None gnomAD-4.0.0 1.37894E-06
8078 1 P/T 1 rs750589456 0.1474 None gnomAD-2.1.1 4.3E-06
8078 1 P/T 1 rs750589456 0.1474 None gnomAD-4.0.0 2.0684E-06
8079 2 S/F 2 None 0.3576 None gnomAD-4.0.0 2.06633E-06
8083 6 T/S 7 None 0.4846 None gnomAD-4.0.0 1.20032E-06
8084 7 P/H 8 None 0.1916 None gnomAD-4.0.0 1.60295E-06
8085 8 D/N 9 rs1553904192 0.9282 None gnomAD-4.0.0 1.60225E-06
8085 8 D/V 9 None 0.9282 None gnomAD-4.0.0 1.20032E-06
8086 9 S/F 11 rs754194524 0.3838 None gnomAD-2.1.1 7.29E-06
8086 9 S/F 11 rs754194524 0.3838 None gnomAD-3.1.2 6.57E-06
8086 9 S/F 11 rs754194524 0.3838 None gnomAD-4.0.0 1.49063E-05
8087 10 V/A 13 rs764391944 0.3600 None gnomAD-2.1.1 4.1E-06
8087 10 V/A 13 rs764391944 0.3600 None gnomAD-4.0.0 1.59778E-06
8087 10 V/E 13 None 0.3600 None gnomAD-3.1.2 6.57E-06
8087 10 V/E 13 None 0.3600 None gnomAD-4.0.0 6.57479E-06
8087 10 V/L 13 None 0.3600 None gnomAD-4.0.0 6.85513E-07
8087 10 V/M 13 None 0.3600 None gnomAD-4.0.0 6.85513E-07
8088 11 E/G 14 None 0.5711 None gnomAD-4.0.0 6.85347E-07
8089 12 V/L 16 rs757252230 0.1893 None gnomAD-2.1.1 3.26E-05
8089 12 V/L 16 rs757252230 0.1893 None gnomAD-3.1.2 4.6E-05
8089 12 V/L 16 rs757252230 0.1893 None gnomAD-4.0.0 8.12931E-05
8090 13 L/F 18 None 0.7148 None gnomAD-4.0.0 6.85156E-07
8091 14 P/A 23 None 0.3899 None gnomAD-4.0.0 2.05539E-06
8091 14 P/L 23 rs1418085481 0.3899 None gnomAD-4.0.0 1.59558E-06
8092 15 G/E 24 None 0.2847 None gnomAD-4.0.0 1.5952E-06
8093 16 M/T 25 rs773993718 0.4609 None gnomAD-2.1.1 4.06E-06
8093 16 M/T 25 rs773993718 0.4609 None gnomAD-4.0.0 1.59434E-06
8094 17 S/N 26 rs574161330 0.3897 None gnomAD-2.1.1 4.06E-06
8094 17 S/N 26 rs574161330 0.3897 None gnomAD-3.1.2 6.58E-06
8094 17 S/N 26 rs574161330 0.3897 None 1000 genomes 1.99681E-04
8094 17 S/N 26 rs574161330 0.3897 None gnomAD-4.0.0 6.5716E-06
8095 18 L/V 28 rs2077909849 0.2112 None gnomAD-3.1.2 6.58E-06
8095 18 L/V 28 rs2077909849 0.2112 None gnomAD-4.0.0 6.5754E-06
8096 19 T/I 29 rs370271716 0.3628 None gnomAD-4.0.0 6.84548E-07
8097 20 F/L 30 rs762434465 0.1448 None gnomAD-2.1.1 8.09E-06
8097 20 F/L 30 rs762434465 0.1448 None gnomAD-4.0.0 4.77797E-06
8098 21 T/S 31 rs2077908653 0.3403 None gnomAD-3.1.2 6.58E-06
8098 21 T/S 31 rs2077908653 0.3403 None gnomAD-4.0.0 2.56414E-06
8099 22 S/G 33 None 0.1082 None gnomAD-4.0.0 1.20032E-06
8099 22 S/N 33 rs1194437921 0.1082 None gnomAD-4.0.0 1.36881E-06
8099 22 S/R 33 rs1289470566 0.1082 None gnomAD-2.1.1 3.19E-05
8099 22 S/R 33 rs1289470566 0.1082 None gnomAD-3.1.2 6.58E-06
8099 22 S/R 33 rs1289470566 0.1082 None gnomAD-4.0.0 2.56374E-06
8101 24 I/N 35 rs200423910 0.1094 None gnomAD-2.1.1 4.04E-06
8101 24 I/N 35 rs200423910 0.1094 None gnomAD-3.1.2 1.31E-05
8101 24 I/N 35 rs200423910 0.1094 None gnomAD-4.0.0 1.17767E-05
8101 24 I/T 35 rs200423910 0.1094 None gnomAD-2.1.1 8.07E-06
8101 24 I/T 35 rs200423910 0.1094 None gnomAD-4.0.0 5.47475E-06
8102 25 R/K 38 rs748064860 0.4782 None gnomAD-2.1.1 4.04E-06
8102 25 R/K 38 rs748064860 0.4782 None gnomAD-3.1.2 6.58E-06
8102 25 R/K 38 rs748064860 0.4782 None gnomAD-4.0.0 6.57514E-06
8103 26 G/S 40 None 0.1366 None gnomAD-4.0.0 1.20032E-06
8104 27 T/I 41 None 0.3166 None gnomAD-4.0.0 1.59177E-06
8105 28 P/R 42 rs1215904654 0.4165 None gnomAD-2.1.1 4.03E-06
8105 28 P/R 42 rs1215904654 0.4165 None gnomAD-4.0.0 3.18352E-06
8105 28 P/S 42 None 0.4165 None gnomAD-4.0.0 6.84299E-07
8106 29 P/L 43 None 0.7560 None gnomAD-4.0.0 6.84299E-07
8108 31 K/E 45 rs776437978 0.6299 None gnomAD-2.1.1 1.21E-05
8108 31 K/E 45 rs776437978 0.6299 None gnomAD-3.1.2 6.58E-06
8108 31 K/E 45 rs776437978 0.6299 None gnomAD-4.0.0 4.33856E-06
8108 31 K/N 45 None 0.6299 None gnomAD-4.0.0 6.8427E-07
8109 32 V/A 46 None 0.2760 None gnomAD-4.0.0 1.20032E-06
8109 32 V/I 46 rs2077903400 0.2760 None gnomAD-3.1.2 6.58E-06
8109 32 V/I 46 rs2077903400 0.2760 None gnomAD-4.0.0 2.56283E-06
8114 37 G/D 51 rs923868923 0.3917 None gnomAD-4.0.0 1.59143E-06
8115 38 S/I 52 None 0.8384 None gnomAD-4.0.0 1.36847E-06
8115 38 S/N 52 rs397517506 0.8384 None gnomAD-2.1.1 8.86E-05
8115 38 S/N 52 rs397517506 0.8384 None gnomAD-3.1.2 3.94E-05
8115 38 S/N 52 rs397517506 0.8384 None gnomAD-4.0.0 4.64801E-05
8117 40 E/D 56 None 0.2868 None gnomAD-4.0.0 1.59135E-06
8118 41 L/P 58 rs780410071 0.2058 None gnomAD-2.1.1 1.61E-05
8118 41 L/P 58 rs780410071 0.2058 None gnomAD-4.0.0 8.21065E-06
8119 42 V/A 59 rs758744997 0.7005 None gnomAD-2.1.1 2.14E-05
8119 42 V/A 59 rs758744997 0.7005 None gnomAD-3.1.2 6.58E-06
8119 42 V/A 59 rs758744997 0.7005 None gnomAD-4.0.0 8.96893E-06
8119 42 V/G 59 None 0.7005 None gnomAD-4.0.0 1.59136E-06
8119 42 V/M 59 rs1232702196 0.7005 None gnomAD-2.1.1 4.03E-06
8119 42 V/M 59 rs1232702196 0.7005 None gnomAD-4.0.0 1.59136E-06
8120 43 P/L 70 None 0.5071 None gnomAD-4.0.0 6.15809E-06
8120 43 P/S 70 rs745913661 0.5071 None gnomAD-2.1.1 4.83E-05
8120 43 P/S 70 rs745913661 0.5071 None gnomAD-4.0.0 3.2843E-05
8121 44 G/A 73 rs1394976705 0.4041 None gnomAD-2.1.1 4.03E-06
8121 44 G/A 73 rs1394976705 0.4041 None gnomAD-4.0.0 6.84222E-07
8121 44 G/E 73 None 0.4041 None gnomAD-4.0.0 6.84222E-07
8121 44 G/R 73 rs778894201 0.4041 None gnomAD-2.1.1 4.03E-06
8121 44 G/R 73 rs778894201 0.4041 None gnomAD-4.0.0 1.59133E-06
8122 45 E/K 102 None 1.1016 None gnomAD-4.0.0 1.59132E-06
8122 45 E/V 102 rs757736721 1.1016 None gnomAD-2.1.1 1.21E-05
8122 45 E/V 102 rs757736721 1.1016 None gnomAD-4.0.0 4.77386E-06
8123 46 S/L 115 rs879096365 0.5190 None gnomAD-2.1.1 8.05E-06
8123 46 S/L 115 rs879096365 0.5190 None gnomAD-3.1.2 1.31E-05
8123 46 S/L 115 rs879096365 0.5190 None gnomAD-4.0.0 9.2958E-06
8123 46 S/P 115 rs1407865752 0.5190 None gnomAD-2.1.1 4.03E-06
8123 46 S/P 115 rs1407865752 0.5190 None gnomAD-4.0.0 1.5913E-06
8124 47 C/R 121 rs1577966478 0.1496 None gnomAD-4.0.0 1.59129E-06
8124 47 C/Y 121 rs754319631 0.1496 None gnomAD-2.1.1 4.03E-06
8124 47 C/Y 121 rs754319631 0.1496 None gnomAD-4.0.0 7.52636E-06
8125 48 N/S 122 None 0.4447 None gnomAD-4.0.0 1.20032E-06
8126 49 I/V 123 rs764456853 0.2407 None gnomAD-2.1.1 8.05E-06
8126 49 I/V 123 rs764456853 0.2407 None gnomAD-4.0.0 1.16315E-05
8128 51 L/V 127 None 0.4195 None gnomAD-4.0.0 1.59127E-06
8132 55 V/A 135 None 0.3266 None gnomAD-4.0.0 1.20032E-06
8133 56 T/A 136 rs2077893682 0.1315 None gnomAD-4.0.0 1.59126E-06
8133 56 T/I 136 rs765991142 0.1315 None gnomAD-2.1.1 3.22E-05
8133 56 T/I 136 rs765991142 0.1315 None gnomAD-3.1.2 1.31E-05
8133 56 T/I 136 rs765991142 0.1315 None gnomAD-4.0.0 3.71826E-06
8133 56 T/R 136 rs765991142 0.1315 None gnomAD-2.1.1 3.62E-05
8133 56 T/R 136 rs765991142 0.1315 None gnomAD-4.0.0 1.36843E-05
8135 58 L/M 138 rs762631646 0.0748 None gnomAD-2.1.1 4.02E-06
8135 58 L/M 138 rs762631646 0.0748 None gnomAD-4.0.0 1.59128E-06
8135 58 L/R 138 rs2077892519 0.0748 None gnomAD-3.1.2 6.57E-06
8135 58 L/R 138 rs2077892519 0.0748 None gnomAD-4.0.0 5.12441E-06
8136 59 E/G 139 None 0.2827 None gnomAD-4.0.0 1.59127E-06
8136 59 E/Q 139 None 0.2827 None gnomAD-4.0.0 3.60097E-06
8138 61 F/S 141 None 0.2964 None gnomAD-4.0.0 1.36842E-06
8139 62 E/Q 143 rs1202623297 0.7691 None gnomAD-2.1.1 4.02E-06
8139 62 E/Q 143 rs1202623297 0.7691 None gnomAD-4.0.0 3.42108E-06
8140 63 V/M 144 rs377210838 0.1184 None gnomAD-2.1.1 4.02E-06
8140 63 V/M 144 rs377210838 0.1184 None gnomAD-4.0.0 1.36843E-06
8141 64 Q/R 145 rs2154299738 0.3124 None gnomAD-4.0.0 2.40064E-06
8142 65 P/S 146 None 0.3647 None gnomAD-4.0.0 3.60097E-06
8142 65 P/T 146 rs990633841 0.3647 None gnomAD-3.1.2 1.32E-05
8142 65 P/T 146 rs990633841 0.3647 None gnomAD-4.0.0 3.04509E-06
8143 66 L/I 148 rs1274064527 1.0791 None gnomAD-2.1.1 4.02E-06
8143 66 L/I 148 rs1274064527 1.0791 None gnomAD-4.0.0 1.36843E-06
8144 67 E/A 149 rs16866465 0.3298 None gnomAD-2.1.1 1.75062E-01
8144 67 E/A 149 rs16866465 0.3298 None gnomAD-3.1.2 1.64715E-01
8144 67 E/A 149 rs16866465 0.3298 None 1000 genomes 2.38818E-01
8144 67 E/A 149 rs16866465 0.3298 None gnomAD-4.0.0 1.63466E-01
8144 67 E/D 149 rs756559627 0.3298 None gnomAD-2.1.1 1.17847E-04
8144 67 E/D 149 rs756559627 0.3298 None gnomAD-3.1.2 3.94E-05
8144 67 E/D 149 rs756559627 0.3298 None gnomAD-4.0.0 1.14028E-04
8144 67 E/G 149 rs16866465 0.3298 None gnomAD-2.1.1 8.05E-06
8144 67 E/G 149 rs16866465 0.3298 None gnomAD-4.0.0 2.73688E-06
8144 67 E/K 149 rs761751961 0.3298 None gnomAD-2.1.1 4.02E-06
8144 67 E/K 149 rs761751961 0.3298 None gnomAD-3.1.2 6.57E-06
8144 67 E/K 149 rs761751961 0.3298 None gnomAD-4.0.0 5.12449E-06
8145 68 S/N 151 rs1560647433 0.2005 None gnomAD-2.1.1 4.02E-06
8145 68 S/N 151 rs1560647433 0.2005 None gnomAD-4.0.0 2.05264E-06
8146 69 G/R 152 None 0.2331 None gnomAD-4.0.0 1.20032E-06
8147 70 D/A 153 None 0.5176 None gnomAD-4.0.0 1.20032E-06
8147 70 D/E 153 None 0.5176 None gnomAD-4.0.0 1.20032E-06
8147 70 D/Y 153 None 0.5176 None gnomAD-4.0.0 1.59131E-06
8148 71 Y/C 154 rs1236449802 0.1437 None gnomAD-2.1.1 4.02E-06
8148 71 Y/C 154 rs1236449802 0.1437 None gnomAD-4.0.0 4.10528E-06
8148 71 Y/N 154 None 0.1437 None gnomAD-4.0.0 1.59133E-06
8149 72 S/F 155 None 0.1741 None gnomAD-4.0.0 1.5913E-06
8149 72 S/P 155 None 0.1741 None gnomAD-4.0.0 1.59129E-06
8149 72 S/Y 155 rs1278756355 0.1741 None gnomAD-2.1.1 4.02E-06
8149 72 S/Y 155 rs1278756355 0.1741 None gnomAD-4.0.0 1.5913E-06
8152 75 V/F 158 rs397517507 0.1155 None gnomAD-2.1.1 4.02E-06
8152 75 V/F 158 rs397517507 0.1155 None gnomAD-4.0.0 2.73688E-06
8152 75 V/I 158 rs397517507 0.1155 None gnomAD-2.1.1 5.36E-05
8152 75 V/I 158 rs397517507 0.1155 None gnomAD-3.1.2 5.26E-05
8152 75 V/I 158 rs397517507 0.1155 None gnomAD-4.0.0 4.52402E-05
8152 75 V/L 158 None 0.1155 None gnomAD-4.0.0 6.84221E-07
8153 76 T/A 159 None 0.2793 None gnomAD-4.0.0 1.59128E-06
8154 77 N/D 161 rs757293293 0.1502 None gnomAD-2.1.1 8.04E-06
8154 77 N/D 161 rs757293293 0.1502 None gnomAD-4.0.0 3.18254E-06
8154 77 N/S 161 rs749455191 0.1502 None gnomAD-2.1.1 4.02E-06
8154 77 N/S 161 rs749455191 0.1502 None gnomAD-4.0.0 2.73685E-06
8156 79 A/P 163 None 0.2520 None gnomAD-4.0.0 1.20032E-06
8157 80 G/S 164 rs753025964 0.2364 None gnomAD-2.1.1 8.05E-06
8157 80 G/S 164 rs753025964 0.2364 None gnomAD-4.0.0 1.64213E-05
8157 80 G/V 164 None 0.2364 None gnomAD-4.0.0 1.59131E-06
8158 81 S/N 165 rs551835183 0.5742 None gnomAD-2.1.1 8.05E-06
8158 81 S/N 165 rs551835183 0.5742 None gnomAD-3.1.2 6.58E-06
8158 81 S/N 165 rs551835183 0.5742 None 1000 genomes 1.99681E-04
8158 81 S/N 165 rs551835183 0.5742 None gnomAD-4.0.0 4.3378E-06
8158 81 S/R 165 rs1471384765 0.5742 None gnomAD-2.1.1 4.02E-06
8158 81 S/R 165 rs1471384765 0.5742 None gnomAD-4.0.0 3.18266E-06
8159 82 A/S 166 None 0.1939 None gnomAD-4.0.0 1.20032E-06
8161 84 C/Y 169 rs372143487 0.1396 None gnomAD-2.1.1 3.19E-05
8161 84 C/Y 169 rs372143487 0.1396 None gnomAD-3.1.2 2.63E-05
8161 84 C/Y 169 rs372143487 0.1396 None gnomAD-4.0.0 1.48737E-05
8163 86 T/I 172 rs1019848168 0.1091 None gnomAD-2.1.1 3.19E-05
8163 86 T/I 172 rs1019848168 0.1091 None gnomAD-3.1.2 1.31E-05
8163 86 T/I 172 rs1019848168 0.1091 None gnomAD-4.0.0 1.31446E-05
8164 87 H/D 173 rs367916657 0.5139 None gnomAD-2.1.1 4.03E-06
8164 87 H/D 173 rs367916657 0.5139 None gnomAD-4.0.0 2.73731E-06
8164 87 H/Q 173 None 0.5139 None gnomAD-4.0.0 6.84376E-06
8164 87 H/Y 173 None 0.5139 None gnomAD-4.0.0 1.36866E-06
8165 88 L/I 174 rs1060500582 0.1184 None gnomAD-3.1.2 6.58E-06
8165 88 L/I 174 rs1060500582 0.1184 None gnomAD-4.0.0 1.85968E-06
8165 88 L/P 174 None 0.1184 None gnomAD-4.0.0 1.20032E-06
8165 88 L/V 174 None 0.1184 None gnomAD-4.0.0 6.844E-07
8166 89 F/L 175 None 0.4688 None gnomAD-4.0.0 1.59266E-06
8166 89 F/S 175 None 0.4688 None gnomAD-4.0.0 6.84458E-07
8167 90 V/M 177 None 0.0818 None gnomAD-4.0.0 1.593E-06