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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 Y F I T K P V V Q K L V E G G S V V F G C Q V G G N P K P H V Y W K K S G V P L T T G Y R Y K V S Y N K Q T G E C K L V I S M T F A D D A G E Y T I V V R N K H G E T S A S A S L L E
P Y F I T K P V V Q K L V E G G S V V F G C Q V G G N P K P H V Y W K K S G V P L T T G Y R Y K V S Y N K Q T G E C K L V I S M T F A D D A G E Y T I V V R N K H G E T S A S A S 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
1085 4 I/F 4 None 0.3683 None gnomAD-4.0.0 6.84076E-07
1085 4 I/V 4 rs2092854519 0.3683 None gnomAD-3.1.2 6.57E-06
1085 4 I/V 4 rs2092854519 0.3683 None gnomAD-4.0.0 4.33709E-06
1086 5 T/A 5 rs1167240676 0.3949 None gnomAD-2.1.1 3.98E-06
1086 5 T/A 5 rs1167240676 0.3949 None gnomAD-4.0.0 1.59056E-06
1086 5 T/R 5 None 0.3949 None gnomAD-4.0.0 1.59054E-06
1088 7 P/S 8 None 0.1981 None gnomAD-4.0.0 1.20032E-06
1089 8 V/M 9 rs1222071933 0.7389 None gnomAD-2.1.1 3.18E-05
1089 8 V/M 9 rs1222071933 0.7389 None gnomAD-3.1.2 1.31E-05
1089 8 V/M 9 rs1222071933 0.7389 None gnomAD-4.0.0 1.31439E-05
1090 9 V/I 11 rs1419239601 0.3972 None gnomAD-4.0.0 1.36815E-06
1091 10 Q/E 13 rs794729528 0.2908 None gnomAD-4.0.0 2.05222E-06
1091 10 Q/R 13 rs779873815 0.2908 None gnomAD-2.1.1 3.98E-06
1091 10 Q/R 13 rs779873815 0.2908 None gnomAD-4.0.0 1.59052E-06
1094 13 V/L 18 None 0.5938 None gnomAD-4.0.0 2.40064E-06
1095 14 E/D 23 rs372103803 0.5631 None gnomAD-3.1.2 6.57E-06
1095 14 E/D 23 rs372103803 0.5631 None gnomAD-4.0.0 7.43491E-06
1096 15 G/V 24 rs2154349693 0.3821 None gnomAD-4.0.0 1.36814E-06
1097 16 G/W 25 None 0.2447 None gnomAD-4.0.0 1.59052E-06
1098 17 S/R 26 rs745660374 0.4968 None gnomAD-2.1.1 3.98E-06
1098 17 S/R 26 rs745660374 0.4968 None gnomAD-3.1.2 6.58E-06
1098 17 S/R 26 rs745660374 0.4968 None gnomAD-4.0.0 8.05496E-06
1099 18 V/M 28 rs368282893 0.1754 None gnomAD-2.1.1 3.19E-05
1099 18 V/M 28 rs368282893 0.1754 None gnomAD-3.1.2 5.92E-05
1099 18 V/M 28 rs368282893 0.1754 None gnomAD-4.0.0 5.88565E-05
1100 19 V/M 29 None 0.4036 None gnomAD-4.0.0 1.59051E-06
1101 20 F/S 30 rs764124432 0.1211 None gnomAD-2.1.1 3.98E-06
1101 20 F/S 30 rs764124432 0.1211 None gnomAD-4.0.0 1.59051E-06
1102 21 G/R 31 rs1016142990 0.3112 None gnomAD-3.1.2 6.57E-06
1102 21 G/R 31 rs1016142990 0.3112 None gnomAD-4.0.0 5.12184E-06
1103 22 C/G 33 None 0.1066 None gnomAD-4.0.0 1.5905E-06
1103 22 C/Y 33 None 0.1066 None gnomAD-4.0.0 1.20032E-06
1105 24 V/A 35 rs1263142800 0.1524 None gnomAD-2.1.1 3.98E-06
1105 24 V/A 35 rs1263142800 0.1524 None gnomAD-4.0.0 5.47256E-06
1107 26 G/S 40 rs767741769 0.2416 None gnomAD-2.1.1 2.83E-05
1107 26 G/S 40 rs767741769 0.2416 None gnomAD-3.1.2 3.94E-05
1107 26 G/S 40 rs767741769 0.2416 None gnomAD-4.0.0 1.36311E-05
1109 28 P/S 42 rs375285782 0.3364 None gnomAD-2.1.1 3.98E-06
1109 28 P/S 42 rs375285782 0.3364 None gnomAD-4.0.0 6.84072E-06
1110 29 K/Q 43 None 0.5763 None gnomAD-4.0.0 1.5905E-06
1111 30 P/L 44 None 0.1401 None gnomAD-4.0.0 1.59051E-06
1111 30 P/S 44 rs727504210 0.1401 None gnomAD-2.1.1 3.98E-06
1111 30 P/S 44 rs727504210 0.1401 None gnomAD-4.0.0 7.52477E-06
1112 31 H/L 45 rs540783675 0.5522 None gnomAD-2.1.1 3.98E-06
1112 31 H/L 45 rs540783675 0.5522 None gnomAD-3.1.2 6.57E-06
1112 31 H/L 45 rs540783675 0.5522 None 1000 genomes 1.99681E-04
1112 31 H/L 45 rs540783675 0.5522 None gnomAD-4.0.0 6.56797E-06
1112 31 H/R 45 None 0.5522 None gnomAD-4.0.0 1.59051E-06
1113 32 V/A 46 rs763409137 0.1532 None gnomAD-2.1.1 7.97E-06
1113 32 V/A 46 rs763409137 0.1532 None gnomAD-4.0.0 1.02611E-05
1116 35 K/E 49 rs1254035556 0.1935 None gnomAD-3.1.2 6.57E-06
1116 35 K/E 49 rs1254035556 0.1935 None gnomAD-4.0.0 6.57108E-06
1117 36 K/T 50 None 0.1344 None gnomAD-4.0.0 1.20032E-06
1118 37 S/C 51 rs2092847836 0.6485 None gnomAD-4.0.0 1.36815E-06
1118 37 S/Y 51 None 0.6485 None gnomAD-4.0.0 6.84075E-07
1119 38 G/D 52 None 0.3477 None gnomAD-4.0.0 1.20032E-06
1119 38 G/S 52 rs2092847521 0.3477 None gnomAD-4.0.0 1.20032E-06
1120 39 V/F 55 None 0.5885 None gnomAD-4.0.0 1.59053E-06
1122 41 L/P 58 rs1189198137 0.2137 None gnomAD-2.1.1 3.98E-06
1122 41 L/P 58 rs1189198137 0.2137 None gnomAD-4.0.0 1.59054E-06
1123 42 T/A 59 None 0.8134 None gnomAD-4.0.0 1.59055E-06
1123 42 T/N 59 None 0.8134 None gnomAD-4.0.0 6.8408E-07
1123 42 T/S 59 rs773799748 0.8134 None gnomAD-2.1.1 2.79E-05
1123 42 T/S 59 rs773799748 0.8134 None gnomAD-3.1.2 7.23E-05
1123 42 T/S 59 rs773799748 0.8134 None gnomAD-4.0.0 3.18111E-06
1124 43 T/A 70 rs2092846515 0.5115 None gnomAD-4.0.0 1.20032E-06
1124 43 T/S 70 None 0.5115 None gnomAD-4.0.0 1.20034E-06
1126 45 Y/C 109 None 0.8712 None gnomAD-4.0.0 1.59059E-06
1126 45 Y/D 109 None 0.8712 None gnomAD-4.0.0 1.20033E-06
1127 46 R/G 115 None 0.1543 None gnomAD-4.0.0 5.47276E-06
1128 47 Y/C 121 None 0.2909 None gnomAD-4.0.0 1.59113E-06
1128 47 Y/H 121 None 0.2909 None gnomAD-4.0.0 1.20032E-06
1129 48 K/N 122 rs765840063 0.7437 None gnomAD-2.1.1 3.98E-06
1129 48 K/N 122 rs765840063 0.7437 None gnomAD-4.0.0 3.18216E-06
1129 48 K/R 122 rs181375012 0.7437 None gnomAD-2.1.1 2.48E-05
1129 48 K/R 122 rs181375012 0.7437 None gnomAD-3.1.2 2.63E-05
1129 48 K/R 122 rs181375012 0.7437 None 1000 genomes 3.99361E-04
1129 48 K/R 122 rs181375012 0.7437 None gnomAD-4.0.0 5.45235E-05
1130 49 V/L 123 rs762402848 0.2736 None gnomAD-2.1.1 7.17E-05
1130 49 V/L 123 rs762402848 0.2736 None gnomAD-3.1.2 1.97E-05
1130 49 V/L 123 rs762402848 0.2736 None gnomAD-4.0.0 3.40808E-05
1131 50 S/N 125 None 0.4421 None gnomAD-4.0.0 1.59101E-06
1132 51 Y/C 127 rs1433964543 0.2264 None gnomAD-2.1.1 3.18E-05
1132 51 Y/C 127 rs1433964543 0.2264 None gnomAD-3.1.2 6.57E-06
1132 51 Y/C 127 rs1433964543 0.2264 None gnomAD-4.0.0 2.56158E-06
1132 51 Y/F 127 None 0.2264 None gnomAD-4.0.0 1.59099E-06
1133 52 N/S 130 rs775192919 0.3217 None gnomAD-2.1.1 1.99E-05
1133 52 N/S 130 rs775192919 0.3217 None gnomAD-3.1.2 1.31E-05
1133 52 N/S 130 rs775192919 0.3217 None gnomAD-4.0.0 4.60988E-05
1135 54 Q/E 132 rs551245931 0.8561 None gnomAD-2.1.1 3.98E-06
1135 54 Q/E 132 rs551245931 0.8561 None gnomAD-3.1.2 6.57E-06
1135 54 Q/E 132 rs551245931 0.8561 None 1000 genomes 1.99681E-04
1135 54 Q/E 132 rs551245931 0.8561 None gnomAD-4.0.0 6.56625E-06
1135 54 Q/H 132 None 0.8561 None gnomAD-4.0.0 1.20036E-06
1135 54 Q/P 132 None 0.8561 None gnomAD-4.0.0 1.20033E-06
1137 56 G/A 134 None 0.1153 None gnomAD-4.0.0 1.36825E-06
1137 56 G/D 134 rs864309575 0.1153 None gnomAD-3.1.2 1.31E-05
1137 56 G/D 134 rs864309575 0.1153 None gnomAD-4.0.0 3.71741E-06
1137 56 G/R 134 rs72647870 0.1153 None gnomAD-2.1.1 2.24058E-03
1137 56 G/R 134 rs72647870 0.1153 None gnomAD-3.1.2 2.294E-03
1137 56 G/R 134 rs72647870 0.1153 None 1000 genomes 9.98403E-04
1137 56 G/R 134 rs72647870 0.1153 None gnomAD-4.0.0 3.01681E-03
1137 56 G/S 134 rs72647870 0.1153 None gnomAD-2.1.1 2.39E-05
1137 56 G/S 134 rs72647870 0.1153 None gnomAD-3.1.2 1.31E-05
1137 56 G/S 134 rs72647870 0.1153 None gnomAD-4.0.0 2.41658E-05
1138 57 E/D 135 rs777365068 0.3639 None gnomAD-2.1.1 3.98E-06
1138 57 E/D 135 rs777365068 0.3639 None gnomAD-4.0.0 2.05237E-06
1138 57 E/G 135 rs749125389 0.3639 None gnomAD-2.1.1 1.19E-05
1138 57 E/G 135 rs749125389 0.3639 None gnomAD-3.1.2 6.57E-06
1138 57 E/G 135 rs749125389 0.3639 None gnomAD-4.0.0 3.71756E-06
1140 59 K/M 137 rs769789570 0.4079 None gnomAD-2.1.1 1.99E-05
1140 59 K/M 137 rs769789570 0.4079 None gnomAD-3.1.2 1.97E-05
1140 59 K/M 137 rs769789570 0.4079 None gnomAD-4.0.0 9.91349E-06
1140 59 K/N 137 None 0.4079 None gnomAD-4.0.0 1.5908E-06
1140 59 K/Q 137 rs1561345560 0.4079 None gnomAD-2.1.1 3.98E-06
1140 59 K/Q 137 rs1561345560 0.4079 None gnomAD-4.0.0 1.5908E-06
1141 60 L/M 138 None 0.0792 None gnomAD-4.0.0 1.20032E-06
1142 61 V/L 139 None 0.2517 None gnomAD-4.0.0 1.20032E-06
1143 62 I/L 140 rs1466464278 0.0864 None gnomAD-2.1.1 3.98E-06
1143 62 I/L 140 rs1466464278 0.0864 None gnomAD-4.0.0 1.59077E-06
1144 63 S/P 141 None 0.4527 None gnomAD-4.0.0 1.20032E-06
1145 64 M/T 143 rs1006970338 0.4665 None gnomAD-2.1.1 7.96E-06
1145 64 M/T 143 rs1006970338 0.4665 None gnomAD-4.0.0 4.7723E-06
1145 64 M/V 143 rs2092731839 0.4665 None gnomAD-3.1.2 6.57E-06
1145 64 M/V 143 rs2092731839 0.4665 None gnomAD-4.0.0 2.5613E-06
1146 65 T/A 144 None 0.1172 None gnomAD-4.0.0 1.59077E-06
1147 66 F/I 145 None 0.4258 None gnomAD-4.0.0 1.20032E-06
1147 66 F/S 145 None 0.4258 None gnomAD-4.0.0 1.20032E-06
1148 67 A/T 146 rs889422639 0.3960 None gnomAD-2.1.1 7.08E-06
1148 67 A/T 146 rs889422639 0.3960 None gnomAD-3.1.2 1.31E-05
1148 67 A/T 146 rs889422639 0.3960 None gnomAD-4.0.0 3.84216E-06
1148 67 A/V 146 None 0.3960 None gnomAD-4.0.0 1.59082E-06
1149 68 D/G 148 rs781299976 0.9885 None gnomAD-2.1.1 7.96E-06
1149 68 D/G 148 rs781299976 0.9885 None gnomAD-4.0.0 4.78887E-06
1149 68 D/N 148 rs368967197 0.9885 None gnomAD-2.1.1 1.42E-05
1149 68 D/N 148 rs368967197 0.9885 None gnomAD-3.1.2 5.91E-05
1149 68 D/N 148 rs368967197 0.9885 None 1000 genomes 1.99681E-04
1149 68 D/N 148 rs368967197 0.9885 None gnomAD-4.0.0 1.53663E-05
1149 68 D/Y 148 rs368967197 0.9885 None gnomAD-2.1.1 3.18E-05
1149 68 D/Y 148 rs368967197 0.9885 None gnomAD-3.1.2 6.57E-06
1149 68 D/Y 148 rs368967197 0.9885 None gnomAD-4.0.0 3.84214E-06
1150 69 D/G 149 None 0.1297 None gnomAD-4.0.0 1.59076E-06
1150 69 D/N 149 rs879038939 0.1297 None gnomAD-2.1.1 7.96E-06
1150 69 D/N 149 rs879038939 0.1297 None gnomAD-4.0.0 2.05235E-06
1150 69 D/Y 149 rs879038939 0.1297 None gnomAD-2.1.1 7.08E-06
1150 69 D/Y 149 rs879038939 0.1297 None gnomAD-3.1.2 6.57E-06
1150 69 D/Y 149 rs879038939 0.1297 None gnomAD-4.0.0 3.71759E-06
1152 71 G/R 152 rs1258678741 0.2600 None gnomAD-2.1.1 3.98E-06
1152 71 G/R 152 rs1258678741 0.2600 None gnomAD-4.0.0 1.5908E-06
1154 73 Y/H 154 None 0.1009 None gnomAD-4.0.0 1.20032E-06
1155 74 T/A 155 rs755080553 0.1983 None gnomAD-2.1.1 7.97E-06
1155 74 T/A 155 rs755080553 0.1983 None gnomAD-4.0.0 2.05235E-06
1155 74 T/I 155 rs1385838473 0.1983 None gnomAD-3.1.2 6.57E-06
1155 74 T/I 155 rs1385838473 0.1983 None gnomAD-4.0.0 9.29403E-06
1156 75 I/T 156 None 0.0646 None gnomAD-4.0.0 2.73646E-06
1156 75 I/V 156 None 0.0646 None gnomAD-4.0.0 1.59076E-06
1157 76 V/A 157 rs1266730376 0.1078 None gnomAD-2.1.1 3.98E-06
1157 76 V/A 157 rs1266730376 0.1078 None gnomAD-4.0.0 1.59073E-06
1157 76 V/I 157 rs397517566 0.1078 None gnomAD-2.1.1 6.02E-05
1157 76 V/I 157 rs397517566 0.1078 None gnomAD-3.1.2 3.29E-05
1157 76 V/I 157 rs397517566 0.1078 None gnomAD-4.0.0 4.21339E-05
1157 76 V/L 157 rs397517566 0.1078 None gnomAD-2.1.1 3.98E-06
1157 76 V/L 157 rs397517566 0.1078 None gnomAD-3.1.2 1.31E-05
1157 76 V/L 157 rs397517566 0.1078 None gnomAD-4.0.0 1.85885E-06
1158 77 V/L 158 rs1210691633 0.0818 None gnomAD-2.1.1 3.98E-06
1158 77 V/L 158 rs1210691633 0.0818 None gnomAD-3.1.2 1.31E-05
1158 77 V/L 158 rs1210691633 0.0818 None gnomAD-4.0.0 8.96523E-06
1159 78 R/C 159 rs797046063 0.3960 None gnomAD-2.1.1 7.97E-06
1159 78 R/C 159 rs797046063 0.3960 None gnomAD-4.0.0 3.42062E-06
1159 78 R/H 159 rs149883066 0.3960 None gnomAD-2.1.1 2.39E-05
1159 78 R/H 159 rs149883066 0.3960 None gnomAD-3.1.2 2.63E-05
1159 78 R/H 159 rs149883066 0.3960 None gnomAD-4.0.0 2.47856E-05
1159 78 R/L 159 rs149883066 0.3960 None gnomAD-2.1.1 1.59E-05
1159 78 R/L 159 rs149883066 0.3960 None gnomAD-3.1.2 1.31E-05
1159 78 R/L 159 rs149883066 0.3960 None gnomAD-4.0.0 1.05339E-05
1159 78 R/S 159 None 0.3960 None gnomAD-2.1.1 1.59E-05
1159 78 R/S 159 None 0.3960 None gnomAD-3.1.2 6.57E-06
1159 78 R/S 159 None 0.3960 None gnomAD-4.0.0 6.81604E-06
1160 79 N/H 161 None 0.1533 None gnomAD-4.0.0 1.59074E-06
1160 79 N/K 161 None 0.1533 None gnomAD-4.0.0 3.18151E-06
1160 79 N/S 161 rs1292982774 0.1533 None gnomAD-2.1.1 7.97E-06
1160 79 N/S 161 rs1292982774 0.1533 None gnomAD-4.0.0 3.18154E-06
1162 81 H/R 163 rs146887683 0.6124 None gnomAD-2.1.1 3.98E-06
1162 81 H/R 163 rs146887683 0.6124 None gnomAD-3.1.2 6.57E-06
1162 81 H/R 163 rs146887683 0.6124 None gnomAD-4.0.0 2.47837E-06
1163 82 G/E 164 rs765678606 0.3055 None gnomAD-2.1.1 7.08E-06
1163 82 G/E 164 rs765678606 0.3055 None gnomAD-3.1.2 3.29E-05
1163 82 G/E 164 rs765678606 0.3055 None gnomAD-4.0.0 3.28541E-05
1164 83 E/K 165 None 0.4584 None gnomAD-4.0.0 1.59081E-06
1164 83 E/V 165 None 0.4584 None gnomAD-4.0.0 1.59078E-06
1165 84 T/I 166 None 0.2267 None gnomAD-4.0.0 1.59087E-06
1165 84 T/N 166 rs762456074 0.2267 None gnomAD-2.1.1 3.98E-06
1166 85 S/F 168 rs374543837 0.4166 None gnomAD-2.1.1 3.98E-06
1167 86 A/T 169 rs1248484876 0.1386 None gnomAD-3.1.2 6.57E-06
1167 86 A/T 169 rs1248484876 0.1386 None gnomAD-4.0.0 6.57125E-06
1168 87 S/P 171 rs1488930199 0.3660 None gnomAD-3.1.2 6.57E-06
1168 87 S/P 171 rs1488930199 0.3660 None gnomAD-4.0.0 4.05949E-06
1170 89 S/F 173 rs759110931 0.2492 None gnomAD-2.1.1 1.99E-05
1170 89 S/F 173 rs759110931 0.2492 None gnomAD-4.0.0 5.47318E-06
1170 89 S/P 173 rs1387634284 0.2492 None gnomAD-2.1.1 6.37E-05
1170 89 S/P 173 rs1387634284 0.2492 None gnomAD-3.1.2 1.97E-05
1170 89 S/P 173 rs1387634284 0.2492 None gnomAD-4.0.0 1.97091E-05
1171 90 L/F 174 rs773680642 0.1009 None gnomAD-2.1.1 3.98E-06
1171 90 L/F 174 rs773680642 0.1009 None gnomAD-3.1.2 6.57E-06
1171 90 L/F 174 rs773680642 0.1009 None gnomAD-4.0.0 2.56165E-06
1172 91 L/I 177 rs375735354 0.5537 None gnomAD-2.1.1 3.59E-05
1172 91 L/I 177 rs375735354 0.5537 None gnomAD-3.1.2 5.26E-05
1172 91 L/I 177 rs375735354 0.5537 None gnomAD-4.0.0 5.94861E-05