Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
1085 4 I/F 4 None 0.4041 None gnomAD-4.0.0 6.84076E-07
1085 4 I/V 4 rs2092854519 0.4041 None gnomAD-3.1.2 6.57E-06
1085 4 I/V 4 rs2092854519 0.4041 None gnomAD-4.0.0 4.33709E-06
1086 5 T/A 5 rs1167240676 0.3705 None gnomAD-2.1.1 3.98E-06
1086 5 T/A 5 rs1167240676 0.3705 None gnomAD-4.0.0 1.59056E-06
1086 5 T/R 5 None 0.3705 None gnomAD-4.0.0 1.59054E-06
1088 7 P/S 8 None 0.1952 None gnomAD-4.0.0 1.20032E-06
1089 8 V/M 9 rs1222071933 0.6746 None gnomAD-2.1.1 3.18E-05
1089 8 V/M 9 rs1222071933 0.6746 None gnomAD-3.1.2 1.31E-05
1089 8 V/M 9 rs1222071933 0.6746 None gnomAD-4.0.0 1.31439E-05
1090 9 V/I 11 rs1419239601 0.5108 None gnomAD-4.0.0 1.36815E-06
1091 10 Q/E 13 rs794729528 0.2775 None gnomAD-4.0.0 2.05222E-06
1091 10 Q/R 13 rs779873815 0.2775 None gnomAD-2.1.1 3.98E-06
1091 10 Q/R 13 rs779873815 0.2775 None gnomAD-4.0.0 1.59052E-06
1094 13 V/L 18 None 0.6020 None gnomAD-4.0.0 2.40064E-06
1095 14 E/D 23 rs372103803 0.6010 None gnomAD-3.1.2 6.57E-06
1095 14 E/D 23 rs372103803 0.6010 None gnomAD-4.0.0 7.43491E-06
1096 15 G/V 24 rs2154349693 0.3975 None gnomAD-4.0.0 1.36814E-06
1097 16 G/W 25 None 0.2314 None gnomAD-4.0.0 1.59052E-06
1098 17 S/R 26 rs745660374 0.4953 None gnomAD-2.1.1 3.98E-06
1098 17 S/R 26 rs745660374 0.4953 None gnomAD-3.1.2 6.58E-06
1098 17 S/R 26 rs745660374 0.4953 None gnomAD-4.0.0 8.05496E-06
1099 18 V/M 28 rs368282893 0.1662 None gnomAD-2.1.1 3.19E-05
1099 18 V/M 28 rs368282893 0.1662 None gnomAD-3.1.2 5.92E-05
1099 18 V/M 28 rs368282893 0.1662 None gnomAD-4.0.0 5.88565E-05
1100 19 V/M 29 None 0.4078 None gnomAD-4.0.0 1.59051E-06
1101 20 F/S 30 rs764124432 0.1166 None gnomAD-2.1.1 3.98E-06
1101 20 F/S 30 rs764124432 0.1166 None gnomAD-4.0.0 1.59051E-06
1102 21 G/R 31 rs1016142990 0.3037 None gnomAD-3.1.2 6.57E-06
1102 21 G/R 31 rs1016142990 0.3037 None gnomAD-4.0.0 5.12184E-06
1103 22 C/G 33 None 0.1047 None gnomAD-4.0.0 1.5905E-06
1103 22 C/Y 33 None 0.1047 None gnomAD-4.0.0 1.20032E-06
1105 24 V/A 35 rs1263142800 0.1612 None gnomAD-2.1.1 3.98E-06
1105 24 V/A 35 rs1263142800 0.1612 None gnomAD-4.0.0 5.47256E-06
1107 26 G/S 40 rs767741769 0.2527 None gnomAD-2.1.1 2.83E-05
1107 26 G/S 40 rs767741769 0.2527 None gnomAD-3.1.2 3.94E-05
1107 26 G/S 40 rs767741769 0.2527 None gnomAD-4.0.0 1.36311E-05
1109 28 P/S 42 rs375285782 0.3380 None gnomAD-2.1.1 3.98E-06
1109 28 P/S 42 rs375285782 0.3380 None gnomAD-4.0.0 6.84072E-06
1110 29 K/Q 43 None 0.5832 None gnomAD-4.0.0 1.5905E-06
1111 30 P/L 44 None 0.1522 None gnomAD-4.0.0 1.59051E-06
1111 30 P/S 44 rs727504210 0.1522 None gnomAD-2.1.1 3.98E-06
1111 30 P/S 44 rs727504210 0.1522 None gnomAD-4.0.0 7.52477E-06
1112 31 H/L 45 rs540783675 0.4757 None gnomAD-2.1.1 3.98E-06
1112 31 H/L 45 rs540783675 0.4757 None gnomAD-3.1.2 6.57E-06
1112 31 H/L 45 rs540783675 0.4757 None 1000 genomes 1.99681E-04
1112 31 H/L 45 rs540783675 0.4757 None gnomAD-4.0.0 6.56797E-06
1112 31 H/R 45 None 0.4757 None gnomAD-4.0.0 1.59051E-06
1113 32 V/A 46 rs763409137 0.1572 None gnomAD-2.1.1 7.97E-06
1113 32 V/A 46 rs763409137 0.1572 None gnomAD-4.0.0 1.02611E-05
1116 35 K/E 49 rs1254035556 0.1955 None gnomAD-3.1.2 6.57E-06
1116 35 K/E 49 rs1254035556 0.1955 None gnomAD-4.0.0 6.57108E-06
1117 36 K/T 50 None 0.1413 None gnomAD-4.0.0 1.20032E-06
1118 37 S/C 51 rs2092847836 0.6597 None gnomAD-4.0.0 1.36815E-06
1118 37 S/Y 51 None 0.6597 None gnomAD-4.0.0 6.84075E-07
1119 38 G/D 52 None 0.3370 None gnomAD-4.0.0 1.20032E-06
1119 38 G/S 52 rs2092847521 0.3370 None gnomAD-4.0.0 1.20032E-06
1120 39 V/F 55 None 0.5902 None gnomAD-4.0.0 1.59053E-06
1122 41 L/P 58 rs1189198137 0.2190 None gnomAD-2.1.1 3.98E-06
1122 41 L/P 58 rs1189198137 0.2190 None gnomAD-4.0.0 1.59054E-06
1123 42 T/A 59 None 0.8578 None gnomAD-4.0.0 1.59055E-06
1123 42 T/N 59 None 0.8578 None gnomAD-4.0.0 6.8408E-07
1123 42 T/S 59 rs773799748 0.8578 None gnomAD-2.1.1 2.79E-05
1123 42 T/S 59 rs773799748 0.8578 None gnomAD-3.1.2 7.23E-05
1123 42 T/S 59 rs773799748 0.8578 None gnomAD-4.0.0 3.18111E-06
1124 43 T/A 70 rs2092846515 0.5154 None gnomAD-4.0.0 1.20032E-06
1124 43 T/S 70 None 0.5154 None gnomAD-4.0.0 1.20034E-06
1126 45 Y/C 109 None 0.7481 None gnomAD-4.0.0 1.59059E-06
1126 45 Y/D 109 None 0.7481 None gnomAD-4.0.0 1.20033E-06
1127 46 R/G 115 None 0.1510 None gnomAD-4.0.0 5.47276E-06
1128 47 Y/C 121 None 0.3268 None gnomAD-4.0.0 1.59113E-06
1128 47 Y/H 121 None 0.3268 None gnomAD-4.0.0 1.20032E-06
1129 48 K/N 122 rs765840063 0.7271 None gnomAD-2.1.1 3.98E-06
1129 48 K/N 122 rs765840063 0.7271 None gnomAD-4.0.0 3.18216E-06
1129 48 K/R 122 rs181375012 0.7271 None gnomAD-2.1.1 2.48E-05
1129 48 K/R 122 rs181375012 0.7271 None gnomAD-3.1.2 2.63E-05
1129 48 K/R 122 rs181375012 0.7271 None 1000 genomes 3.99361E-04
1129 48 K/R 122 rs181375012 0.7271 None gnomAD-4.0.0 5.45235E-05
1130 49 V/L 123 rs762402848 0.2700 None gnomAD-2.1.1 7.17E-05
1130 49 V/L 123 rs762402848 0.2700 None gnomAD-3.1.2 1.97E-05
1130 49 V/L 123 rs762402848 0.2700 None gnomAD-4.0.0 3.40808E-05
1131 50 S/N 125 None 0.4411 None gnomAD-4.0.0 1.59101E-06
1132 51 Y/C 127 rs1433964543 0.2323 None gnomAD-2.1.1 3.18E-05
1132 51 Y/C 127 rs1433964543 0.2323 None gnomAD-3.1.2 6.57E-06
1132 51 Y/C 127 rs1433964543 0.2323 None gnomAD-4.0.0 2.56158E-06
1132 51 Y/F 127 None 0.2323 None gnomAD-4.0.0 1.59099E-06
1133 52 N/S 130 rs775192919 0.3059 None gnomAD-2.1.1 1.99E-05
1133 52 N/S 130 rs775192919 0.3059 None gnomAD-3.1.2 1.31E-05
1133 52 N/S 130 rs775192919 0.3059 None gnomAD-4.0.0 4.60988E-05
1135 54 Q/E 132 rs551245931 0.8456 None gnomAD-2.1.1 3.98E-06
1135 54 Q/E 132 rs551245931 0.8456 None gnomAD-3.1.2 6.57E-06
1135 54 Q/E 132 rs551245931 0.8456 None 1000 genomes 1.99681E-04
1135 54 Q/E 132 rs551245931 0.8456 None gnomAD-4.0.0 6.56625E-06
1135 54 Q/H 132 None 0.8456 None gnomAD-4.0.0 1.20036E-06
1135 54 Q/P 132 None 0.8456 None gnomAD-4.0.0 1.20033E-06
1137 56 G/A 134 None 0.1385 None gnomAD-4.0.0 1.36825E-06
1137 56 G/D 134 rs864309575 0.1385 None gnomAD-3.1.2 1.31E-05
1137 56 G/D 134 rs864309575 0.1385 None gnomAD-4.0.0 3.71741E-06
1137 56 G/R 134 rs72647870 0.1385 None gnomAD-2.1.1 2.24058E-03
1137 56 G/R 134 rs72647870 0.1385 None gnomAD-3.1.2 2.294E-03
1137 56 G/R 134 rs72647870 0.1385 None 1000 genomes 9.98403E-04
1137 56 G/R 134 rs72647870 0.1385 None gnomAD-4.0.0 3.01681E-03
1137 56 G/S 134 rs72647870 0.1385 None gnomAD-2.1.1 2.39E-05
1137 56 G/S 134 rs72647870 0.1385 None gnomAD-3.1.2 1.31E-05
1137 56 G/S 134 rs72647870 0.1385 None gnomAD-4.0.0 2.41658E-05
1138 57 E/D 135 rs777365068 0.3524 None gnomAD-2.1.1 3.98E-06
1138 57 E/D 135 rs777365068 0.3524 None gnomAD-4.0.0 2.05237E-06
1138 57 E/G 135 rs749125389 0.3524 None gnomAD-2.1.1 1.19E-05
1138 57 E/G 135 rs749125389 0.3524 None gnomAD-3.1.2 6.57E-06
1138 57 E/G 135 rs749125389 0.3524 None gnomAD-4.0.0 3.71756E-06
1140 59 K/M 137 rs769789570 0.4024 None gnomAD-2.1.1 1.99E-05
1140 59 K/M 137 rs769789570 0.4024 None gnomAD-3.1.2 1.97E-05
1140 59 K/M 137 rs769789570 0.4024 None gnomAD-4.0.0 9.91349E-06
1140 59 K/N 137 None 0.4024 None gnomAD-4.0.0 1.5908E-06
1140 59 K/Q 137 rs1561345560 0.4024 None gnomAD-2.1.1 3.98E-06
1140 59 K/Q 137 rs1561345560 0.4024 None gnomAD-4.0.0 1.5908E-06
1141 60 L/M 138 None 0.0773 None gnomAD-4.0.0 1.20032E-06
1142 61 V/L 139 None 0.2609 None gnomAD-4.0.0 1.20032E-06
1143 62 I/L 140 rs1466464278 0.0881 None gnomAD-2.1.1 3.98E-06
1143 62 I/L 140 rs1466464278 0.0881 None gnomAD-4.0.0 1.59077E-06
1144 63 S/P 141 None 0.3286 None gnomAD-4.0.0 1.20032E-06
1145 64 M/T 143 rs1006970338 0.3777 None gnomAD-2.1.1 7.96E-06
1145 64 M/T 143 rs1006970338 0.3777 None gnomAD-4.0.0 4.7723E-06
1145 64 M/V 143 rs2092731839 0.3777 None gnomAD-3.1.2 6.57E-06
1145 64 M/V 143 rs2092731839 0.3777 None gnomAD-4.0.0 2.5613E-06
1146 65 T/A 144 None 0.1044 None gnomAD-4.0.0 1.59077E-06
1147 66 F/I 145 None 0.4545 None gnomAD-4.0.0 1.20032E-06
1147 66 F/S 145 None 0.4545 None gnomAD-4.0.0 1.20032E-06
1148 67 A/T 146 rs889422639 0.4138 None gnomAD-2.1.1 7.08E-06
1148 67 A/T 146 rs889422639 0.4138 None gnomAD-3.1.2 1.31E-05
1148 67 A/T 146 rs889422639 0.4138 None gnomAD-4.0.0 3.84216E-06
1148 67 A/V 146 None 0.4138 None gnomAD-4.0.0 1.59082E-06
1149 68 D/G 148 rs781299976 0.9768 None gnomAD-2.1.1 7.96E-06
1149 68 D/G 148 rs781299976 0.9768 None gnomAD-4.0.0 4.78887E-06
1149 68 D/N 148 rs368967197 0.9768 None gnomAD-2.1.1 1.42E-05
1149 68 D/N 148 rs368967197 0.9768 None gnomAD-3.1.2 5.91E-05
1149 68 D/N 148 rs368967197 0.9768 None 1000 genomes 1.99681E-04
1149 68 D/N 148 rs368967197 0.9768 None gnomAD-4.0.0 1.53663E-05
1149 68 D/Y 148 rs368967197 0.9768 None gnomAD-2.1.1 3.18E-05
1149 68 D/Y 148 rs368967197 0.9768 None gnomAD-3.1.2 6.57E-06
1149 68 D/Y 148 rs368967197 0.9768 None gnomAD-4.0.0 3.84214E-06
1150 69 D/G 149 None 0.1317 None gnomAD-4.0.0 1.59076E-06
1150 69 D/N 149 rs879038939 0.1317 None gnomAD-2.1.1 7.96E-06
1150 69 D/N 149 rs879038939 0.1317 None gnomAD-4.0.0 2.05235E-06
1150 69 D/Y 149 rs879038939 0.1317 None gnomAD-2.1.1 7.08E-06
1150 69 D/Y 149 rs879038939 0.1317 None gnomAD-3.1.2 6.57E-06
1150 69 D/Y 149 rs879038939 0.1317 None gnomAD-4.0.0 3.71759E-06
1152 71 G/R 152 rs1258678741 0.2599 None gnomAD-2.1.1 3.98E-06
1152 71 G/R 152 rs1258678741 0.2599 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 0.2033 None gnomAD-2.1.1 7.97E-06
1155 74 T/A 155 rs755080553 0.2033 None gnomAD-4.0.0 2.05235E-06
1155 74 T/I 155 rs1385838473 0.2033 None gnomAD-3.1.2 6.57E-06
1155 74 T/I 155 rs1385838473 0.2033 None gnomAD-4.0.0 9.29403E-06
1156 75 I/T 156 None 0.0673 None gnomAD-4.0.0 2.73646E-06
1156 75 I/V 156 None 0.0673 None gnomAD-4.0.0 1.59076E-06
1157 76 V/A 157 rs1266730376 0.1154 None gnomAD-2.1.1 3.98E-06
1157 76 V/A 157 rs1266730376 0.1154 None gnomAD-4.0.0 1.59073E-06
1157 76 V/I 157 rs397517566 0.1154 None gnomAD-2.1.1 6.02E-05
1157 76 V/I 157 rs397517566 0.1154 None gnomAD-3.1.2 3.29E-05
1157 76 V/I 157 rs397517566 0.1154 None gnomAD-4.0.0 4.21339E-05
1157 76 V/L 157 rs397517566 0.1154 None gnomAD-2.1.1 3.98E-06
1157 76 V/L 157 rs397517566 0.1154 None gnomAD-3.1.2 1.31E-05
1157 76 V/L 157 rs397517566 0.1154 None gnomAD-4.0.0 1.85885E-06
1158 77 V/L 158 rs1210691633 0.0840 None gnomAD-2.1.1 3.98E-06
1158 77 V/L 158 rs1210691633 0.0840 None gnomAD-3.1.2 1.31E-05
1158 77 V/L 158 rs1210691633 0.0840 None gnomAD-4.0.0 8.96523E-06
1159 78 R/C 159 rs797046063 0.3451 None gnomAD-2.1.1 7.97E-06
1159 78 R/C 159 rs797046063 0.3451 None gnomAD-4.0.0 3.42062E-06
1159 78 R/H 159 rs149883066 0.3451 None gnomAD-2.1.1 2.39E-05
1159 78 R/H 159 rs149883066 0.3451 None gnomAD-3.1.2 2.63E-05
1159 78 R/H 159 rs149883066 0.3451 None gnomAD-4.0.0 2.47856E-05
1159 78 R/L 159 rs149883066 0.3451 None gnomAD-2.1.1 1.59E-05
1159 78 R/L 159 rs149883066 0.3451 None gnomAD-3.1.2 1.31E-05
1159 78 R/L 159 rs149883066 0.3451 None gnomAD-4.0.0 1.05339E-05
1159 78 R/S 159 None 0.3451 None gnomAD-2.1.1 1.59E-05
1159 78 R/S 159 None 0.3451 None gnomAD-3.1.2 6.57E-06
1159 78 R/S 159 None 0.3451 None gnomAD-4.0.0 6.81604E-06
1160 79 N/H 161 None 0.1668 None gnomAD-4.0.0 1.59074E-06
1160 79 N/K 161 None 0.1668 None gnomAD-4.0.0 3.18151E-06
1160 79 N/S 161 rs1292982774 0.1668 None gnomAD-2.1.1 7.97E-06
1160 79 N/S 161 rs1292982774 0.1668 None gnomAD-4.0.0 3.18154E-06
1162 81 H/R 163 rs146887683 0.6705 None gnomAD-2.1.1 3.98E-06
1162 81 H/R 163 rs146887683 0.6705 None gnomAD-3.1.2 6.57E-06
1162 81 H/R 163 rs146887683 0.6705 None gnomAD-4.0.0 2.47837E-06
1163 82 G/E 164 rs765678606 0.3033 None gnomAD-2.1.1 7.08E-06
1163 82 G/E 164 rs765678606 0.3033 None gnomAD-3.1.2 3.29E-05
1163 82 G/E 164 rs765678606 0.3033 None gnomAD-4.0.0 3.28541E-05
1164 83 E/K 165 None 0.4624 None gnomAD-4.0.0 1.59081E-06
1164 83 E/V 165 None 0.4624 None gnomAD-4.0.0 1.59078E-06
1165 84 T/I 166 None 0.2057 None gnomAD-4.0.0 1.59087E-06
1165 84 T/N 166 rs762456074 0.2057 None gnomAD-2.1.1 3.98E-06
1166 85 S/F 168 rs374543837 0.4360 None gnomAD-2.1.1 3.98E-06
1167 86 A/T 169 rs1248484876 0.1460 None gnomAD-3.1.2 6.57E-06
1167 86 A/T 169 rs1248484876 0.1460 None gnomAD-4.0.0 6.57125E-06
1168 87 S/P 171 rs1488930199 0.3646 None gnomAD-3.1.2 6.57E-06
1168 87 S/P 171 rs1488930199 0.3646 None gnomAD-4.0.0 4.05949E-06
1170 89 S/F 173 rs759110931 0.2752 None gnomAD-2.1.1 1.99E-05
1170 89 S/F 173 rs759110931 0.2752 None gnomAD-4.0.0 5.47318E-06
1170 89 S/P 173 rs1387634284 0.2752 None gnomAD-2.1.1 6.37E-05
1170 89 S/P 173 rs1387634284 0.2752 None gnomAD-3.1.2 1.97E-05
1170 89 S/P 173 rs1387634284 0.2752 None gnomAD-4.0.0 1.97091E-05
1171 90 L/F 174 rs773680642 0.0987 None gnomAD-2.1.1 3.98E-06
1171 90 L/F 174 rs773680642 0.0987 None gnomAD-3.1.2 6.57E-06
1171 90 L/F 174 rs773680642 0.0987 None gnomAD-4.0.0 2.56165E-06
1172 91 L/I 177 rs375735354 0.5589 None gnomAD-2.1.1 3.59E-05
1172 91 L/I 177 rs375735354 0.5589 None gnomAD-3.1.2 5.26E-05
1172 91 L/I 177 rs375735354 0.5589 None gnomAD-4.0.0 5.94861E-05