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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
9113 2 K/I 2 rs775352248 0.6897 None gnomAD-2.1.1 8.11E-06
9114 3 F/L 3 None 0.1270 None gnomAD-4.0.0 1.20032E-06
9117 6 R/K 7 None 0.5345 None gnomAD-2.1.1 4.05E-06
9117 6 R/K 7 None 0.5345 None gnomAD-4.0.0 1.36963E-06
9117 6 R/M 7 rs375907742 0.5345 None gnomAD-2.1.1 4.05E-06
9117 6 R/M 7 rs375907742 0.5345 None gnomAD-3.1.2 6.57E-06
9117 6 R/M 7 rs375907742 0.5345 None gnomAD-4.0.0 1.24041E-06
9117 6 R/S 7 None 0.5345 None gnomAD-4.0.0 1.59463E-06
9117 6 R/T 7 rs375907742 0.5345 None gnomAD-2.1.1 6.11E-05
9117 6 R/T 7 rs375907742 0.5345 None gnomAD-3.1.2 6.57E-05
9117 6 R/T 7 rs375907742 0.5345 None gnomAD-4.0.0 2.23274E-05
9119 8 N/K 9 rs2154296108 0.7705 None gnomAD-3.1.2 6.57E-06
9119 8 N/K 9 rs2154296108 0.7705 None gnomAD-4.0.0 6.56607E-06
9119 8 N/S 9 None 0.7705 None gnomAD-4.0.0 1.36946E-06
9120 9 D/Y 11 None 0.5648 None gnomAD-4.0.0 1.20032E-06
9121 10 Y/C 13 rs774681899 0.6259 None gnomAD-2.1.1 4.05E-06
9121 10 Y/C 13 rs774681899 0.6259 None gnomAD-3.1.2 6.57E-06
9121 10 Y/C 13 rs774681899 0.6259 None gnomAD-4.0.0 1.30186E-05
9122 11 S/G 14 rs2076813561 0.3413 None gnomAD-4.0.0 1.20032E-06
9123 12 I/T 16 rs879134187 0.1041 None gnomAD-3.1.2 6.57E-06
9123 12 I/T 16 rs879134187 0.1041 None gnomAD-4.0.0 3.71925E-06
9123 12 I/V 16 rs2076812939 0.1041 None gnomAD-3.1.2 6.57E-06
9123 12 I/V 16 rs2076812939 0.1041 None gnomAD-4.0.0 7.10456E-06
9124 13 E/D 18 None 0.6659 None gnomAD-4.0.0 1.20032E-06
9125 14 K/N 23 rs749332790 0.6751 None gnomAD-2.1.1 4.04E-06
9125 14 K/N 23 rs749332790 0.6751 None gnomAD-3.1.2 1.31E-05
9125 14 K/N 23 rs749332790 0.6751 None gnomAD-4.0.0 1.31406E-05
9126 15 G/R 24 None 0.2596 None gnomAD-4.0.0 1.59228E-06
9128 17 P/L 26 None 0.4376 None gnomAD-4.0.0 1.36872E-06
9128 17 P/S 26 rs1283675898 0.4376 None gnomAD-2.1.1 4.03E-06
9128 17 P/S 26 rs1283675898 0.4376 None gnomAD-4.0.0 3.18424E-06
9130 19 I/N 29 rs1316381392 0.4408 None gnomAD-2.1.1 3.19E-05
9130 19 I/N 29 rs1316381392 0.4408 None gnomAD-3.1.2 3.29E-05
9130 19 I/N 29 rs1316381392 0.4408 None gnomAD-4.0.0 2.72701E-05
9133 22 G/A 33 None 0.1049 None gnomAD-4.0.0 6.84281E-07
9133 22 G/D 33 None 0.1049 None gnomAD-4.0.0 6.84282E-07
9133 22 G/S 33 None 0.1049 None gnomAD-4.0.0 8.89577E-06
9133 22 G/V 33 rs773438838 0.1049 None gnomAD-2.1.1 8.05E-06
9133 22 G/V 33 rs773438838 0.1049 None gnomAD-4.0.0 1.36856E-06
9134 23 T/I 34 rs1023873134 0.2057 None gnomAD-3.1.2 1.31E-05
9134 23 T/I 34 rs1023873134 0.2057 None gnomAD-4.0.0 8.05683E-06
9134 23 T/R 34 rs1023873134 0.2057 None gnomAD-2.1.1 4.02E-06
9134 23 T/R 34 rs1023873134 0.2057 None gnomAD-4.0.0 6.84265E-07
9135 24 F/L 35 None 0.0810 None gnomAD-4.0.0 2.40065E-06
9137 26 G/R 40 rs1311310606 0.3843 None gnomAD-2.1.1 4.02E-06
9137 26 G/R 40 rs1311310606 0.3843 None gnomAD-4.0.0 2.05269E-06
9138 27 T/I 41 None 0.7597 None gnomAD-4.0.0 1.20032E-06
9138 27 T/N 41 None 0.7597 None gnomAD-4.0.0 1.20032E-06
9139 28 P/L 42 rs770133378 0.6080 None gnomAD-2.1.1 8.03E-06
9139 28 P/L 42 rs770133378 0.6080 None gnomAD-3.1.2 1.31E-05
9139 28 P/L 42 rs770133378 0.6080 None gnomAD-4.0.0 1.36338E-05
9140 29 P/L 43 rs371352652 0.8539 None gnomAD-2.1.1 7.13E-06
9140 29 P/L 43 rs371352652 0.8539 None gnomAD-3.1.2 1.31E-05
9140 29 P/L 43 rs371352652 0.8539 None gnomAD-4.0.0 1.31491E-05
9141 30 I/V 44 None 0.1578 None gnomAD-4.0.0 1.59126E-06
9142 31 S/L 45 rs781609380 0.3185 None gnomAD-2.1.1 8.03E-06
9142 31 S/L 45 rs781609380 0.3185 None gnomAD-3.1.2 1.32E-05
9142 31 S/L 45 rs781609380 0.3185 None gnomAD-4.0.0 1.17748E-05
9143 32 V/F 46 rs186857044 0.2513 None gnomAD-2.1.1 1.16471E-04
9143 32 V/F 46 rs186857044 0.2513 None gnomAD-3.1.2 1.97E-05
9143 32 V/F 46 rs186857044 0.2513 None 1000 genomes 1.99681E-04
9143 32 V/F 46 rs186857044 0.2513 None gnomAD-4.0.0 5.14329E-05
9143 32 V/L 46 None 0.2513 None gnomAD-4.0.0 6.84207E-07
9145 34 W/C 48 rs1284458172 0.1550 None gnomAD-2.1.1 3.19E-05
9145 34 W/C 48 rs1284458172 0.1550 None gnomAD-4.0.0 1.59126E-06
9147 36 K/E 50 None 0.1585 None gnomAD-4.0.0 1.20032E-05
9149 38 G/A 52 rs755633188 0.4191 None gnomAD-2.1.1 4.02E-06
9149 38 G/A 52 rs755633188 0.4191 None gnomAD-3.1.2 1.32E-05
9149 38 G/A 52 rs755633188 0.4191 None gnomAD-4.0.0 3.09859E-06
9149 38 G/D 52 rs755633188 0.4191 None gnomAD-2.1.1 3.19E-05
9149 38 G/D 52 rs755633188 0.4191 None gnomAD-3.1.2 6.58E-06
9149 38 G/D 52 rs755633188 0.4191 None gnomAD-4.0.0 1.23944E-06
9149 38 G/V 52 None 0.4191 None gnomAD-4.0.0 6.84202E-07
9150 39 I/M 55 rs1553891488 0.7140 None gnomAD-3.1.2 6.57E-06
9150 39 I/M 55 rs1553891488 0.7140 None gnomAD-4.0.0 6.57367E-06
9150 39 I/V 55 None 0.7140 None gnomAD-4.0.0 1.20032E-06
9151 40 N/S 56 rs752655439 0.6524 None gnomAD-2.1.1 8.03E-06
9151 40 N/S 56 rs752655439 0.6524 None gnomAD-3.1.2 1.31E-05
9151 40 N/S 56 rs752655439 0.6524 None gnomAD-4.0.0 8.67595E-06
9152 41 V/A 58 None 0.2628 None gnomAD-4.0.0 1.59118E-06
9152 41 V/I 58 rs548808954 0.2628 None gnomAD-2.1.1 8.03E-06
9152 41 V/I 58 rs548808954 0.2628 None gnomAD-3.1.2 6.58E-06
9152 41 V/I 58 rs548808954 0.2628 None 1000 genomes 1.99681E-04
9152 41 V/I 58 rs548808954 0.2628 None gnomAD-4.0.0 1.85903E-06
9152 41 V/L 58 None 0.2628 None gnomAD-4.0.0 6.842E-07
9154 43 P/L 70 None 0.5278 None gnomAD-4.0.0 1.20032E-06
9154 43 P/S 70 None 0.5278 None gnomAD-4.0.0 6.84188E-07
9155 44 S/C 73 rs774307822 0.3289 None gnomAD-2.1.1 8.03E-06
9155 44 S/C 73 rs774307822 0.3289 None gnomAD-4.0.0 4.10512E-06
9155 44 S/F 73 rs774307822 0.3289 None gnomAD-2.1.1 4.01E-06
9155 44 S/P 73 None 0.3289 None gnomAD-4.0.0 1.59115E-06
9158 47 C/S 121 None 0.1517 None gnomAD-4.0.0 1.59113E-06
9158 47 C/Y 121 None 0.1517 None gnomAD-4.0.0 2.40064E-06
9159 48 N/S 122 None 0.5291 None gnomAD-4.0.0 1.59116E-06
9160 49 I/T 123 rs2076799987 0.2420 None gnomAD-3.1.2 6.57E-06
9160 49 I/T 123 rs2076799987 0.2420 None gnomAD-4.0.0 6.57445E-06
9162 51 T/K 127 None 0.4439 None gnomAD-4.0.0 6.84197E-07
9162 51 T/M 127 rs199793620 0.4439 None gnomAD-2.1.1 8.56E-05
9162 51 T/M 127 rs199793620 0.4439 None gnomAD-3.1.2 2.82787E-04
9162 51 T/M 127 rs199793620 0.4439 None gnomAD-4.0.0 7.00286E-05
9162 51 T/R 127 rs199793620 0.4439 None gnomAD-2.1.1 4.02E-06
9162 51 T/R 127 rs199793620 0.4439 None gnomAD-4.0.0 1.36839E-06
9165 54 K/N 134 None 0.6023 None gnomAD-4.0.0 1.20032E-06
9166 55 S/L 135 rs773637100 0.1355 None gnomAD-2.1.1 4.02E-06
9166 55 S/L 135 rs773637100 0.1355 None gnomAD-4.0.0 3.42096E-06
9167 56 A/E 136 rs777165769 0.0966 None gnomAD-2.1.1 4.02E-06
9167 56 A/E 136 rs777165769 0.0966 None gnomAD-4.0.0 1.59121E-06
9169 58 L/M 138 None 0.1004 None gnomAD-4.0.0 1.20032E-06
9169 58 L/P 138 rs769078430 0.1004 None gnomAD-2.1.1 4.02E-06
9169 58 L/P 138 rs769078430 0.1004 None gnomAD-4.0.0 3.18227E-06
9173 62 S/G 143 rs1312859517 0.4502 None gnomAD-2.1.1 4.02E-06
9173 62 S/G 143 rs1312859517 0.4502 None gnomAD-4.0.0 1.84731E-05
9173 62 S/N 143 None 0.4502 None gnomAD-4.0.0 1.59116E-06
9174 63 S/N 144 None 0.1108 None gnomAD-4.0.0 1.20032E-06
9175 64 T/R 145 rs1438488035 0.2665 None gnomAD-4.0.0 9.57878E-06
9177 66 E/G 148 rs1296040087 0.4637 None gnomAD-2.1.1 3.18E-05
9177 66 E/G 148 rs1296040087 0.4637 None gnomAD-3.1.2 6.57E-06
9177 66 E/G 148 rs1296040087 0.4637 None gnomAD-4.0.0 6.5716E-06
9177 66 E/K 148 None 0.4637 None gnomAD-4.0.0 1.08029E-05
9178 67 D/G 149 rs747327863 0.2019 None gnomAD-2.1.1 8.03E-06
9178 67 D/G 149 rs747327863 0.2019 None gnomAD-4.0.0 6.36472E-06
9178 67 D/V 149 None 0.2019 None gnomAD-4.0.0 1.59118E-06
9179 68 A/V 151 rs1377122264 0.2298 None gnomAD-4.0.0 8.89464E-06
9180 69 G/E 152 None 0.1717 None gnomAD-4.0.0 1.59121E-06
9180 69 G/R 152 rs1435275543 0.1717 None gnomAD-3.1.2 6.57E-06
9180 69 G/R 152 rs1435275543 0.1717 None gnomAD-4.0.0 6.57419E-06
9181 70 Q/P 153 rs758826201 0.4745 None gnomAD-2.1.1 8.03E-06
9181 70 Q/P 153 rs758826201 0.4745 None gnomAD-4.0.0 3.18237E-06
9182 71 Y/C 154 rs777336514 0.1508 None gnomAD-2.1.1 2.5E-05
9182 71 Y/C 154 rs777336514 0.1508 None gnomAD-3.1.2 6.57E-06
9182 71 Y/C 154 rs777336514 0.1508 None gnomAD-4.0.0 8.96716E-06
9182 71 Y/F 154 rs777336514 0.1508 None gnomAD-2.1.1 4.02E-06
9184 73 C/Y 156 rs752178779 0.0554 None gnomAD-2.1.1 4.02E-06
9184 73 C/Y 156 rs752178779 0.0554 None gnomAD-4.0.0 1.59128E-06
9185 74 Y/C 157 rs1477423741 0.3304 None gnomAD-2.1.1 4.02E-06
9185 74 Y/C 157 rs1477423741 0.3304 None gnomAD-4.0.0 1.59124E-06
9186 75 I/T 158 None 0.0550 None gnomAD-4.0.0 1.20032E-06
9186 75 I/V 158 rs781132732 0.0550 None gnomAD-2.1.1 4.02E-06
9186 75 I/V 158 rs781132732 0.0550 None gnomAD-3.1.2 6.57E-06
9186 75 I/V 158 rs781132732 0.0550 None gnomAD-4.0.0 7.68624E-06
9187 76 E/D 159 rs796818398 0.5087 None gnomAD-2.1.1 4.02E-06
9187 76 E/D 159 rs796818398 0.5087 None gnomAD-4.0.0 2.73685E-06
9187 76 E/K 159 rs1195527997 0.5087 None gnomAD-2.1.1 4.02E-06
9187 76 E/K 159 rs1195527997 0.5087 None gnomAD-4.0.0 1.59133E-06
9188 77 N/K 161 None 0.1912 None gnomAD-4.0.0 6.84217E-07
9188 77 N/Y 161 None 0.1912 None gnomAD-4.0.0 1.59129E-06
9189 78 A/G 162 None 0.8048 None gnomAD-4.0.0 6.84231E-07
9189 78 A/V 162 None 0.8048 None gnomAD-4.0.0 8.21078E-06
9191 80 G/R 164 rs141502557 0.2635 None gnomAD-2.1.1 4.02E-06
9191 80 G/R 164 rs141502557 0.2635 None gnomAD-3.1.2 6.57E-06
9191 80 G/R 164 rs141502557 0.2635 None 1000 genomes 1.99681E-04
9191 80 G/R 164 rs141502557 0.2635 None gnomAD-4.0.0 1.8591E-06
9192 81 K/R 165 None 0.8783 None gnomAD-4.0.0 4.7742E-06
9193 82 D/H 166 None 0.2181 None gnomAD-4.0.0 6.84252E-07
9193 82 D/N 166 rs2076787614 0.2181 None gnomAD-3.1.2 6.57E-06
9193 82 D/Y 166 rs2076787614 0.2181 None gnomAD-4.0.0 2.05276E-06
9194 83 S/A 168 rs766272800 0.3206 None gnomAD-2.1.1 1.07E-05
9194 83 S/A 168 rs766272800 0.3206 None gnomAD-3.1.2 1.31E-05
9194 83 S/A 168 rs766272800 0.3206 None gnomAD-4.0.0 4.33808E-06
9194 83 S/F 168 None 0.3206 None gnomAD-4.0.0 1.20032E-06
9195 84 C/F 169 None 0.0891 None gnomAD-4.0.0 6.84269E-07
9195 84 C/R 169 rs762899501 0.0891 None gnomAD-2.1.1 3.57E-05
9195 84 C/R 169 rs762899501 0.0891 None gnomAD-3.1.2 6.57E-06
9195 84 C/R 169 rs762899501 0.0891 None gnomAD-4.0.0 4.33802E-06
9195 84 C/S 169 rs750638085 0.0891 None gnomAD-2.1.1 7.14E-06
9195 84 C/S 169 rs750638085 0.0891 None gnomAD-3.1.2 1.97E-05
9195 84 C/S 169 rs750638085 0.0891 None gnomAD-4.0.0 9.29655E-06
9196 85 S/L 171 None 0.3140 None gnomAD-4.0.0 8.40225E-06
9196 85 S/T 171 rs1350223598 0.3140 None gnomAD-3.1.2 6.57E-06
9196 85 S/T 171 rs1350223598 0.3140 None gnomAD-4.0.0 3.0448E-06
9197 86 A/V 172 rs1219833647 0.1047 None gnomAD-2.1.1 4.02E-06
9197 86 A/V 172 rs1219833647 0.1047 None gnomAD-4.0.0 1.36863E-06
9198 87 Q/E 173 rs72648995 0.3669 None gnomAD-2.1.1 1.16658E-04
9198 87 Q/E 173 rs72648995 0.3669 None gnomAD-3.1.2 1.97E-05
9198 87 Q/E 173 rs72648995 0.3669 None gnomAD-4.0.0 4.7414E-05
9198 87 Q/R 173 rs368297438 0.3669 None gnomAD-2.1.1 8.21E-05
9198 87 Q/R 173 rs368297438 0.3669 None gnomAD-3.1.2 2.36568E-04
9198 87 Q/R 173 rs368297438 0.3669 None gnomAD-4.0.0 3.65685E-05
9199 88 I/K 174 rs1207087892 0.1004 None gnomAD-3.1.2 6.57E-06
9199 88 I/K 174 rs1207087892 0.1004 None gnomAD-4.0.0 3.84476E-06
9200 89 L/F 175 None 0.5601 None gnomAD-4.0.0 1.5923E-06
9200 89 L/P 175 rs776598104 0.5601 None gnomAD-4.0.0 1.36927E-06
9200 89 L/R 175 rs776598104 0.5601 None gnomAD-2.1.1 8.05E-06
9200 89 L/R 175 rs776598104 0.5601 None gnomAD-4.0.0 2.0539E-06
9201 90 I/K 177 rs911557684 0.1650 None gnomAD-3.1.2 6.57E-06
9201 90 I/K 177 rs911557684 0.1650 None gnomAD-4.0.0 2.02988E-06
9201 90 I/M 177 rs2154295981 0.1650 None gnomAD-4.0.0 1.20032E-06
9201 90 I/V 177 None 0.1650 None gnomAD-4.0.0 6.84793E-07