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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
15208 1 L/F 1 rs1339878633 0.2665 None gnomAD-2.1.1 4.1E-06
15208 1 L/F 1 rs1339878633 0.2665 None gnomAD-4.0.0 2.74473E-06
15209 2 R/S 2 None 0.5425 None gnomAD-4.0.0 6.85951E-07
15210 3 I/M 3 None 0.2293 None gnomAD-4.0.0 1.37185E-06
15210 3 I/N 3 rs193086479 0.2293 None gnomAD-2.1.1 4.08E-06
15210 3 I/N 3 rs193086479 0.2293 None gnomAD-3.1.2 6.58E-06
15210 3 I/N 3 rs193086479 0.2293 None 1000 genomes 1.99681E-04
15210 3 I/N 3 rs193086479 0.2293 None gnomAD-4.0.0 6.57808E-06
15210 3 I/V 3 None 0.2293 None gnomAD-4.0.0 1.37187E-06
15211 4 V/I 4 rs1387120198 0.3715 None gnomAD-2.1.1 7.21E-06
15211 4 V/I 4 rs1387120198 0.3715 None gnomAD-3.1.2 2.64E-05
15211 4 V/I 4 rs1387120198 0.3715 None gnomAD-4.0.0 1.17969E-05
15212 5 V/I 5 None 0.3388 None gnomAD-4.0.0 1.20032E-06
15214 7 L/P 8 rs2154211474 0.1437 None gnomAD-3.1.2 6.58E-06
15214 7 L/P 8 rs2154211474 0.1437 None gnomAD-4.0.0 6.57843E-06
15215 8 K/E 9 None 0.7825 None gnomAD-4.0.0 1.20032E-06
15215 8 K/T 9 rs374244504 0.7825 None gnomAD-2.1.1 1.22E-05
15215 8 K/T 9 rs374244504 0.7825 None gnomAD-3.1.2 1.32E-05
15215 8 K/T 9 rs374244504 0.7825 None 1000 genomes 1.99681E-04
15215 8 K/T 9 rs374244504 0.7825 None gnomAD-4.0.0 5.13608E-06
15217 10 T/I 13 None 0.3115 None gnomAD-4.0.0 3.18912E-06
15218 11 R/Q 14 rs548035065 0.4868 None gnomAD-2.1.1 8.09E-06
15218 11 R/Q 14 rs548035065 0.4868 None gnomAD-3.1.2 1.98E-05
15218 11 R/Q 14 rs548035065 0.4868 None 1000 genomes 1.99681E-04
15218 11 R/Q 14 rs548035065 0.4868 None gnomAD-4.0.0 7.44314E-06
15218 11 R/W 14 rs371621174 0.4868 None gnomAD-2.1.1 4.05E-05
15218 11 R/W 14 rs371621174 0.4868 None gnomAD-3.1.2 4.61E-05
15218 11 R/W 14 rs371621174 0.4868 None gnomAD-4.0.0 4.5905E-05
15219 12 V/M 16 rs765315826 0.1708 None gnomAD-2.1.1 4.05E-06
15219 12 V/M 16 rs765315826 0.1708 None gnomAD-4.0.0 1.59445E-06
15222 15 Q/K 24 rs2058168500 0.7054 None gnomAD-4.0.0 8.21724E-06
15223 16 Q/E 25 None 0.3649 None gnomAD-4.0.0 6.84776E-07
15223 16 Q/H 25 rs1261811728 0.3649 None gnomAD-2.1.1 4.05E-06
15223 16 Q/H 25 rs1261811728 0.3649 None gnomAD-4.0.0 6.84763E-07
15224 17 E/K 26 None 0.4477 None gnomAD-4.0.0 1.36951E-06
15225 18 V/A 28 rs1449233780 0.1555 None gnomAD-2.1.1 4.05E-06
15225 18 V/A 28 rs1449233780 0.1555 None gnomAD-4.0.0 1.59415E-06
15225 18 V/F 28 None 0.1555 None gnomAD-4.0.0 6.84749E-07
15225 18 V/I 28 rs757519339 0.1555 None gnomAD-2.1.1 8.09E-06
15225 18 V/I 28 rs757519339 0.1555 None gnomAD-3.1.2 6.58E-06
15225 18 V/I 28 rs757519339 0.1555 None gnomAD-4.0.0 1.24047E-06
15228 21 N/I 31 None 0.4492 None gnomAD-4.0.0 1.59407E-06
15229 22 C/Y 33 rs753818213 0.1135 None gnomAD-2.1.1 8.09E-06
15229 22 C/Y 33 rs753818213 0.1135 None gnomAD-4.0.0 3.18814E-06
15230 23 E/G 34 rs1209787066 0.2755 None gnomAD-2.1.1 4.04E-06
15230 23 E/G 34 rs1209787066 0.2755 None gnomAD-4.0.0 3.1879E-06
15232 25 N/D 38 None 0.3199 None gnomAD-4.0.0 1.20032E-06
15233 26 T/I 40 rs1267073931 0.4307 None gnomAD-2.1.1 3.19E-05
15233 26 T/I 40 rs1267073931 0.4307 None gnomAD-3.1.2 1.98E-05
15233 26 T/I 40 rs1267073931 0.4307 None gnomAD-4.0.0 2.48085E-06
15233 26 T/N 40 None 0.4307 None gnomAD-4.0.0 3.42352E-06
15234 27 E/K 41 rs1457956988 0.8650 None gnomAD-3.1.2 1.32E-05
15234 27 E/K 41 rs1457956988 0.8650 None gnomAD-4.0.0 7.69807E-06
15235 28 G/D 43 rs376949328 0.5690 None gnomAD-2.1.1 1.21E-05
15235 28 G/D 43 rs376949328 0.5690 None gnomAD-4.0.0 2.05408E-06
15236 29 A/T 44 None 0.1649 None gnomAD-4.0.0 2.40064E-06
15239 32 K/N 47 None 0.7095 None gnomAD-4.0.0 1.20032E-06
15241 34 F/L 49 None 0.2127 None gnomAD-4.0.0 2.73866E-06
15242 35 R/G 50 rs373778707 0.4004 None gnomAD-2.1.1 2.51E-05
15242 35 R/G 50 rs373778707 0.4004 None gnomAD-3.1.2 4.61E-05
15242 35 R/G 50 rs373778707 0.4004 None gnomAD-4.0.0 2.10851E-05
15242 35 R/K 50 rs140795503 0.4004 None gnomAD-2.1.1 9.7E-05
15242 35 R/K 50 rs140795503 0.4004 None gnomAD-3.1.2 3.29E-05
15242 35 R/K 50 rs140795503 0.4004 None 1000 genomes 1.99681E-04
15242 35 R/K 50 rs140795503 0.4004 None gnomAD-4.0.0 6.57351E-05
15244 37 E/A 52 rs759829017 0.6223 None gnomAD-2.1.1 4.04E-06
15244 37 E/A 52 rs759829017 0.6223 None gnomAD-3.1.2 6.58E-06
15244 37 E/A 52 rs759829017 0.6223 None gnomAD-4.0.0 5.13219E-06
15245 38 E/A 55 rs1310228213 0.6548 None gnomAD-2.1.1 3.19E-05
15245 38 E/A 55 rs1310228213 0.6548 None gnomAD-3.1.2 1.97E-05
15245 38 E/A 55 rs1310228213 0.6548 None gnomAD-4.0.0 1.97483E-05
15245 38 E/K 55 rs774793155 0.6548 None gnomAD-4.0.0 1.59387E-06
15246 39 A/G 56 None 0.2913 None gnomAD-4.0.0 6.84668E-07
15247 40 I/L 58 rs373857517 0.1183 None gnomAD-2.1.1 1.79E-05
15247 40 I/L 58 rs373857517 0.1183 None gnomAD-3.1.2 3.95E-05
15247 40 I/L 58 rs373857517 0.1183 None gnomAD-4.0.0 2.72867E-05
15247 40 I/M 58 None 0.1183 None gnomAD-4.0.0 1.59365E-06
15247 40 I/T 58 rs2058158687 0.1183 None gnomAD-4.0.0 4.79251E-06
15247 40 I/V 58 rs373857517 0.1183 None gnomAD-2.1.1 4.04E-06
15247 40 I/V 58 rs373857517 0.1183 None gnomAD-3.1.2 2.63E-05
15247 40 I/V 58 rs373857517 0.1183 None gnomAD-4.0.0 2.63345E-05
15248 41 F/I 59 None 0.7691 None gnomAD-4.0.0 1.20032E-06
15248 41 F/L 59 None 0.7691 None gnomAD-4.0.0 1.20032E-06
15249 42 D/H 70 rs1467540790 0.5720 None gnomAD-3.1.2 6.59E-06
15249 42 D/H 70 rs1467540790 0.5720 None gnomAD-4.0.0 6.58623E-06
15249 42 D/N 70 None 0.5720 None gnomAD-4.0.0 1.59361E-06
15250 43 S/C 73 rs776190494 0.2546 None gnomAD-2.1.1 8.08E-05
15250 43 S/C 73 rs776190494 0.2546 None gnomAD-3.1.2 1.32E-05
15250 43 S/C 73 rs776190494 0.2546 None gnomAD-4.0.0 4.03089E-05
15250 43 S/G 73 None 0.2546 None gnomAD-4.0.0 6.84641E-07
15250 43 S/T 73 None 0.2546 None gnomAD-4.0.0 1.20032E-06
15254 47 I/F 122 rs72677226 0.2962 None gnomAD-2.1.1 1.21199E-04
15254 47 I/F 122 rs72677226 0.2962 None gnomAD-3.1.2 3.29E-05
15254 47 I/F 122 rs72677226 0.2962 None gnomAD-4.0.0 5.13194E-05
15254 47 I/M 122 None 0.2962 None gnomAD-4.0.0 1.59356E-06
15254 47 I/N 122 rs2058156310 0.2962 None gnomAD-3.1.2 6.6E-06
15254 47 I/N 122 rs2058156310 0.2962 None gnomAD-4.0.0 6.5957E-06
15254 47 I/V 122 rs72677226 0.2962 None gnomAD-2.1.1 4.04E-06
15254 47 I/V 122 rs72677226 0.2962 None gnomAD-4.0.0 1.59356E-06
15255 48 I/F 123 None 0.2489 None gnomAD-4.0.0 1.59355E-06
15255 48 I/T 123 rs746579432 0.2489 None gnomAD-2.1.1 8.08E-06
15255 48 I/T 123 rs746579432 0.2489 None gnomAD-3.1.2 6.59E-06
15255 48 I/T 123 rs746579432 0.2489 None gnomAD-4.0.0 5.1329E-06
15255 48 I/V 123 None 0.2489 None gnomAD-4.0.0 1.59355E-06
15259 52 D/V 131 None 0.6326 None gnomAD-4.0.0 4.10766E-06
15260 53 L/P 134 rs552053581 0.2790 None gnomAD-2.1.1 4.88581E-04
15260 53 L/P 134 rs552053581 0.2790 None gnomAD-3.1.2 1.05485E-04
15260 53 L/P 134 rs552053581 0.2790 None 1000 genomes 1.99681E-04
15260 53 L/P 134 rs552053581 0.2790 None gnomAD-4.0.0 2.41241E-04
15260 53 L/V 134 rs758419306 0.2790 None gnomAD-2.1.1 4.04E-06
15260 53 L/V 134 rs758419306 0.2790 None gnomAD-3.1.2 1.32E-05
15260 53 L/V 134 rs758419306 0.2790 None gnomAD-4.0.0 4.06173E-06
15261 54 V/D 135 rs978618827 0.2606 None gnomAD-2.1.1 4.04E-06
15261 54 V/D 135 rs978618827 0.2606 None gnomAD-3.1.2 1.97E-05
15261 54 V/D 135 rs978618827 0.2606 None gnomAD-4.0.0 7.4407E-06
15262 55 Y/F 136 rs2058153201 0.1404 None gnomAD-4.0.0 1.5934E-06
15262 55 Y/S 136 None 0.1404 None gnomAD-4.0.0 3.18679E-06
15263 56 T/N 137 rs1198734931 0.1570 None gnomAD-2.1.1 3.19E-05
15263 56 T/N 137 rs1198734931 0.1570 None gnomAD-3.1.2 1.32E-05
15263 56 T/N 137 rs1198734931 0.1570 None gnomAD-4.0.0 3.10064E-06
15264 57 L/F 138 None 0.0789 None gnomAD-4.0.0 4.79222E-06
15264 57 L/P 138 None 0.0789 None gnomAD-4.0.0 1.59332E-06
15264 57 L/V 138 None 0.0789 None gnomAD-4.0.0 6.84603E-07
15265 58 R/G 139 rs764279926 0.4174 None gnomAD-2.1.1 4.04E-06
15265 58 R/G 139 rs764279926 0.4174 None gnomAD-4.0.0 3.42291E-06
15266 59 I/N 140 rs1214768698 0.0874 None gnomAD-2.1.1 4.04E-06
15266 59 I/N 140 rs1214768698 0.0874 None gnomAD-4.0.0 1.59328E-06
15268 61 D/G 143 rs2058150967 0.4604 None gnomAD-4.0.0 1.20033E-06
15268 61 D/H 143 None 0.4604 None gnomAD-4.0.0 2.40065E-06
15269 62 A/P 144 None 0.0966 None gnomAD-4.0.0 1.59334E-06
15269 62 A/V 144 rs1576550520 0.0966 None gnomAD-4.0.0 1.59332E-06
15270 63 H/P 145 None 0.4575 None gnomAD-4.0.0 1.20032E-06
15272 65 D/E 148 rs540340364 0.7211 None gnomAD-2.1.1 4.03E-06
15272 65 D/E 148 rs540340364 0.7211 None 1000 genomes 1.99681E-04
15272 65 D/E 148 rs540340364 0.7211 None gnomAD-4.0.0 1.59335E-06
15272 65 D/G 148 None 0.7211 None gnomAD-4.0.0 1.59333E-06
15272 65 D/N 148 rs559878591 0.7211 None gnomAD-2.1.1 2.15E-05
15272 65 D/N 148 rs559878591 0.7211 None gnomAD-3.1.2 3.29E-05
15272 65 D/N 148 rs559878591 0.7211 None 1000 genomes 1.99681E-04
15272 65 D/N 148 rs559878591 0.7211 None gnomAD-4.0.0 8.68073E-06
15275 68 A/V 152 rs760059046 0.1412 None gnomAD-2.1.1 8.07E-06
15275 68 A/V 152 rs760059046 0.1412 None gnomAD-4.0.0 4.78004E-06
15276 69 N/H 153 None 0.2971 None gnomAD-4.0.0 1.59329E-06
15277 70 Y/C 154 rs1274378566 0.1020 None gnomAD-2.1.1 4.03E-06
15277 70 Y/C 154 rs1274378566 0.1020 None gnomAD-4.0.0 1.59329E-06
15279 72 V/L 156 None 0.0968 None gnomAD-4.0.0 6.84593E-07
15279 72 V/M 156 rs727504197 0.0968 None gnomAD-2.1.1 1.07E-05
15279 72 V/M 156 rs727504197 0.0968 None gnomAD-4.0.0 5.47674E-06
15280 73 S/F 157 rs763279178 0.1825 None gnomAD-2.1.1 1.21E-05
15280 73 S/F 157 rs763279178 0.1825 None gnomAD-4.0.0 3.18677E-06
15281 74 L/F 158 rs574423141 0.1146 None gnomAD-2.1.1 7.26E-05
15281 74 L/F 158 rs574423141 0.1146 None gnomAD-3.1.2 1.97E-05
15281 74 L/F 158 rs574423141 0.1146 None 1000 genomes 1.99681E-04
15281 74 L/F 158 rs574423141 0.1146 None gnomAD-4.0.0 2.23216E-05
15282 75 T/A 159 rs1248616113 0.3006 None gnomAD-4.0.0 4.79218E-06
15283 76 N/H 161 rs992729815 0.1695 None gnomAD-3.1.2 6.58E-06
15283 76 N/H 161 rs992729815 0.1695 None gnomAD-4.0.0 2.03025E-06
15283 76 N/S 161 rs1326395034 0.1695 None gnomAD-2.1.1 4.03E-06
15283 76 N/S 161 rs1326395034 0.1695 None gnomAD-3.1.2 1.32E-05
15283 76 N/S 161 rs1326395034 0.1695 None gnomAD-4.0.0 6.20078E-06
15284 77 H/R 162 None 0.7704 None gnomAD-4.0.0 1.20032E-06
15285 78 R/S 163 rs794729439 0.5544 None gnomAD-4.0.0 3.60097E-06
15291 84 S/N 170 None 0.1866 None gnomAD-4.0.0 1.50621E-05
15291 84 S/R 170 None 0.1866 None gnomAD-4.0.0 1.59361E-06
15292 85 A/T 171 None 0.3320 None gnomAD-4.0.0 6.8465E-07
15292 85 A/V 171 rs1419332401 0.3320 None gnomAD-3.1.2 1.32E-05
15292 85 A/V 171 rs1419332401 0.3320 None gnomAD-4.0.0 1.31621E-05
15293 86 A/G 172 rs1453100283 0.0894 None gnomAD-2.1.1 4.03E-06
15293 86 A/G 172 rs1453100283 0.0894 None gnomAD-4.0.0 6.84666E-07
15293 86 A/S 172 None 0.0894 None gnomAD-4.0.0 1.59372E-06
15293 86 A/V 172 None 0.0894 None gnomAD-4.0.0 6.84666E-07
15297 90 V/A 178 rs775158152 0.1873 None gnomAD-2.1.1 1.79E-05
15297 90 V/A 178 rs775158152 0.1873 None gnomAD-3.1.2 6.58E-06
15297 90 V/A 178 rs775158152 0.1873 None gnomAD-4.0.0 1.67464E-05