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

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
20173 3 G/R 3 None 0.2139 None gnomAD-4.0.0 1.20032E-06
20175 5 P/L 5 rs771358314 0.0896 None gnomAD-2.1.1 4.83E-05
20175 5 P/L 5 rs771358314 0.0896 None gnomAD-3.1.2 6.58E-06
20175 5 P/L 5 rs771358314 0.0896 None gnomAD-4.0.0 3.28524E-05
20175 5 P/R 5 None 0.0896 None gnomAD-4.0.0 6.84344E-07
20175 5 P/S 5 rs774790016 0.0896 None gnomAD-2.1.1 4.02E-06
20175 5 P/S 5 rs774790016 0.0896 None gnomAD-4.0.0 1.59197E-06
20176 6 T/A 6 None 0.2888 None gnomAD-4.0.0 1.59199E-06
20177 7 G/D 7 rs878911746 0.4643 None gnomAD-4.0.0 2.05304E-06
20178 8 P/R 8 None 0.6397 None gnomAD-4.0.0 1.20032E-06
20179 9 I/V 9 rs1370265685 0.1045 None gnomAD-2.1.1 4.02E-06
20179 9 I/V 9 rs1370265685 0.1045 None gnomAD-4.0.0 1.77932E-05
20180 10 N/H 11 rs1030296243 0.3643 None gnomAD-2.1.1 4.03E-06
20180 10 N/H 11 rs1030296243 0.3643 None gnomAD-3.1.2 6.58E-06
20180 10 N/H 11 rs1030296243 0.3643 None gnomAD-4.0.0 3.71919E-06
20182 12 L/M 13 None 0.3431 None gnomAD-4.0.0 2.40064E-06
20183 13 D/G 14 None 0.3170 None gnomAD-4.0.0 1.5921E-06
20184 14 V/I 15 rs564621227 0.1370 None gnomAD-2.1.1 1.21E-05
20184 14 V/I 15 rs564621227 0.1370 None gnomAD-3.1.2 2.63E-05
20184 14 V/I 15 rs564621227 0.1370 None 1000 genomes 1.99681E-04
20184 14 V/I 15 rs564621227 0.1370 None gnomAD-4.0.0 4.33883E-05
20185 15 T/I 16 None 0.1809 None gnomAD-4.0.0 2.40067E-06
20186 16 P/A 17 rs768019616 0.3165 None gnomAD-2.1.1 4.03E-06
20186 16 P/R 17 rs746586306 0.3165 None gnomAD-2.1.1 4.03E-06
20186 16 P/R 17 rs746586306 0.3165 None gnomAD-4.0.0 1.59211E-06
20187 17 E/Q 18 rs2154184823 0.7466 None gnomAD-4.0.0 1.20032E-06
20188 18 H/R 19 None 0.2191 None gnomAD-4.0.0 1.36877E-06
20188 18 H/Y 19 None 0.2191 None gnomAD-4.0.0 1.59217E-06
20189 19 M/I 20 rs771935490 0.0720 None gnomAD-2.1.1 8.06E-06
20189 19 M/I 20 rs771935490 0.0720 None gnomAD-3.1.2 1.32E-05
20189 19 M/I 20 rs771935490 0.0720 None gnomAD-4.0.0 1.59219E-06
20189 19 M/R 20 None 0.0720 None gnomAD-4.0.0 6.8438E-07
20189 19 M/T 20 rs2050118678 0.0720 None gnomAD-4.0.0 2.73752E-06
20189 19 M/V 20 rs2050119125 0.0720 None gnomAD-4.0.0 4.79064E-06
20191 21 I/L 22 rs745806239 0.0661 None gnomAD-2.1.1 2.01E-05
20191 21 I/L 22 rs745806239 0.0661 None gnomAD-4.0.0 6.84385E-06
20192 22 S/P 23 None 0.1299 None gnomAD-4.0.0 1.59227E-06
20193 23 W/R 24 None 0.0967 None gnomAD-4.0.0 1.20032E-06
20196 26 P/H 27 None 0.1354 None gnomAD-4.0.0 2.40064E-06
20197 27 K/N 28 None 0.9154 None gnomAD-4.0.0 6.84413E-07
20197 27 K/T 28 None 0.9154 None gnomAD-4.0.0 1.20032E-06
20198 28 D/N 29 None 0.4015 None gnomAD-4.0.0 1.20032E-06
20202 32 S/R 33 rs794729468 0.1259 None gnomAD-2.1.1 3.19E-05
20202 32 S/R 33 rs794729468 0.1259 None gnomAD-3.1.2 1.97E-05
20202 32 S/R 33 rs794729468 0.1259 None gnomAD-4.0.0 5.07584E-06
20203 33 P/A 34 None 0.6546 None gnomAD-4.0.0 6.84432E-07
20203 33 P/L 34 rs753978233 0.6546 None gnomAD-2.1.1 4.03E-06
20203 33 P/L 34 rs753978233 0.6546 None gnomAD-4.0.0 1.59246E-06
20203 33 P/S 34 rs757129250 0.6546 None gnomAD-2.1.1 1.79E-05
20203 33 P/S 34 rs757129250 0.6546 None gnomAD-3.1.2 6.58E-06
20203 33 P/S 34 rs757129250 0.6546 None gnomAD-4.0.0 6.19974E-06
20205 35 I/V 36 rs1278691474 0.4544 None gnomAD-2.1.1 3.19E-05
20205 35 I/V 36 rs1278691474 0.4544 None gnomAD-3.1.2 6.58E-06
20205 35 I/V 36 rs1278691474 0.4544 None gnomAD-4.0.0 2.56394E-06
20207 37 Y/H 38 None 0.1017 None gnomAD-4.0.0 1.20032E-06
20208 38 I/T 39 rs752768925 0.2346 None gnomAD-2.1.1 2.15E-05
20208 38 I/T 39 rs752768925 0.2346 None gnomAD-3.1.2 1.97E-05
20208 38 I/T 39 rs752768925 0.2346 None gnomAD-4.0.0 3.90537E-05
20209 39 V/A 40 rs1163844137 0.0777 None gnomAD-2.1.1 4.03E-06
20209 39 V/A 40 rs1163844137 0.0777 None gnomAD-4.0.0 2.73759E-06
20209 39 V/G 40 rs1163844137 0.0777 None gnomAD-2.1.1 4.03E-06
20209 39 V/G 40 rs1163844137 0.0777 None gnomAD-4.0.0 1.36879E-06
20211 41 K/T 42 rs760080560 0.2774 None gnomAD-2.1.1 4.03E-06
20211 41 K/T 42 rs760080560 0.2774 None gnomAD-4.0.0 1.59222E-06
20213 43 D/N 44 rs1186567480 0.1691 None gnomAD-2.1.1 4.03E-06
20213 43 D/N 44 rs1186567480 0.1691 None gnomAD-4.0.0 1.59217E-06
20214 44 T/K 50 None 0.3357 None gnomAD-4.0.0 1.59223E-06
20214 44 T/S 50 rs1358705514 0.3357 None gnomAD-3.1.2 6.58E-06
20214 44 T/S 50 rs1358705514 0.3357 None gnomAD-4.0.0 5.12719E-06
20215 45 R/G 54 rs1223437077 0.5177 None gnomAD-3.1.2 6.57E-06
20215 45 R/G 54 rs1223437077 0.5177 None gnomAD-4.0.0 6.57497E-06
20215 45 R/S 54 rs1248408963 0.5177 None gnomAD-2.1.1 1.21E-05
20215 45 R/S 54 rs1248408963 0.5177 None gnomAD-3.1.2 3.29E-05
20215 45 R/S 54 rs1248408963 0.5177 None gnomAD-4.0.0 1.15371E-05
20218 48 T/A 64 rs766630391 0.7226 None gnomAD-2.1.1 2.42E-05
20218 48 T/A 64 rs766630391 0.7226 None gnomAD-4.0.0 8.89675E-06
20218 48 T/K 64 rs375155937 0.7226 None gnomAD-4.0.0 1.36875E-06
20218 48 T/M 64 rs375155937 0.7226 None gnomAD-2.1.1 2.51E-05
20218 48 T/M 64 rs375155937 0.7226 None gnomAD-3.1.2 1.32E-05
20218 48 T/M 64 rs375155937 0.7226 None gnomAD-4.0.0 9.29821E-06
20219 49 W/L 65 rs372281297 0.3102 None gnomAD-2.1.1 4.03E-06
20220 50 G/A 66 rs1273167845 0.2591 None gnomAD-2.1.1 4.03E-06
20220 50 G/A 66 rs1273167845 0.2591 None gnomAD-4.0.0 6.84362E-07
20220 50 G/D 66 None 0.2591 None gnomAD-4.0.0 6.84362E-07
20220 50 G/R 66 rs1342105365 0.2591 None gnomAD-2.1.1 4.03E-06
20220 50 G/R 66 rs1342105365 0.2591 None gnomAD-4.0.0 1.5921E-06
20221 51 V/A 67 None 0.4986 None gnomAD-4.0.0 1.20033E-06
20221 51 V/I 67 rs2050102457 0.4986 None gnomAD-4.0.0 1.59214E-06
20222 52 V/A 68 None 0.2532 None gnomAD-4.0.0 1.20032E-06
20222 52 V/F 68 rs760330888 0.2532 None gnomAD-2.1.1 4.03E-06
20222 52 V/F 68 rs760330888 0.2532 None gnomAD-4.0.0 1.59211E-06
20225 55 G/E 75 rs1428725715 0.4185 None gnomAD-2.1.1 3.19E-05
20225 55 G/E 75 rs1428725715 0.4185 None gnomAD-3.1.2 6.58E-06
20225 55 G/E 75 rs1428725715 0.4185 None gnomAD-4.0.0 2.56349E-06
20225 55 G/R 75 rs771598189 0.4185 None gnomAD-2.1.1 2.51E-05
20225 55 G/R 75 rs771598189 0.4185 None gnomAD-3.1.2 1.32E-05
20225 55 G/R 75 rs771598189 0.4185 None gnomAD-4.0.0 1.36371E-05
20226 56 S/R 77 None 0.1635 None gnomAD-4.0.0 1.592E-06
20226 56 S/T 77 None 0.1635 None gnomAD-4.0.0 1.20032E-06
20227 57 S/G 83 None 0.6144 None gnomAD-4.0.0 2.40064E-06
20227 57 S/N 83 None 0.6144 None gnomAD-4.0.0 3.18394E-06
20227 57 S/R 83 None 0.6144 None gnomAD-4.0.0 1.20032E-06
20228 58 K/R 88 None 0.7693 None gnomAD-4.0.0 1.592E-06
20229 59 T/A 89 rs747588848 0.2342 None gnomAD-4.0.0 2.73735E-06
20229 59 T/I 89 None 0.2342 None gnomAD-4.0.0 1.59205E-06
20233 63 I/V 93 rs1434582972 0.0977 None gnomAD-2.1.1 4.03E-06
20233 63 I/V 93 rs1434582972 0.0977 None gnomAD-4.0.0 3.18377E-06
20234 64 P/S 94 None 0.3733 None gnomAD-4.0.0 1.20032E-06
20235 65 H/L 96 None 0.8313 None gnomAD-4.0.0 1.20032E-06
20235 65 H/Q 96 rs745785822 0.8313 None gnomAD-2.1.1 5.65E-05
20235 65 H/Q 96 rs745785822 0.8313 None gnomAD-3.1.2 6.58E-06
20235 65 H/Q 96 rs745785822 0.8313 None gnomAD-4.0.0 2.47931E-05
20235 65 H/R 96 rs2050096769 0.8313 None gnomAD-3.1.2 6.58E-06
20235 65 H/R 96 rs2050096769 0.8313 None gnomAD-4.0.0 2.03005E-06
20236 66 L/R 97 rs778953994 0.1283 None gnomAD-2.1.1 4.04E-06
20236 66 L/R 97 rs778953994 0.1283 None gnomAD-3.1.2 6.58E-06
20236 66 L/R 97 rs778953994 0.1283 None gnomAD-4.0.0 6.57592E-06
20237 67 Q/R 98 None 0.5962 None gnomAD-4.0.0 1.5919E-06
20238 68 K/R 99 None 0.7660 None gnomAD-4.0.0 1.20032E-06
20239 69 G/A 100 None 0.4442 None gnomAD-4.0.0 1.20032E-06
20239 69 G/R 100 None 0.4442 None gnomAD-4.0.0 4.10599E-06
20239 69 G/S 100 rs2050095324 0.4442 None gnomAD-3.1.2 6.58E-06
20239 69 G/S 100 rs2050095324 0.4442 None gnomAD-4.0.0 3.719E-06
20240 70 C/R 102 None 0.1540 None gnomAD-4.0.0 4.80129E-06
20240 70 C/Y 102 rs1054918425 0.1540 None gnomAD-2.1.1 4.04E-06
20240 70 C/Y 102 rs1054918425 0.1540 None gnomAD-4.0.0 5.47467E-06
20241 71 E/K 103 None 0.2796 None gnomAD-4.0.0 6.84335E-07
20241 71 E/Q 103 rs200212521 0.2796 None gnomAD-2.1.1 1.20048E-03
20241 71 E/Q 103 rs200212521 0.2796 None gnomAD-3.1.2 1.1243E-03
20241 71 E/Q 103 rs200212521 0.2796 None 1000 genomes 1.99681E-04
20241 71 E/Q 103 rs200212521 0.2796 None gnomAD-4.0.0 1.30959E-03
20242 72 Y/C 104 None 0.1241 None gnomAD-4.0.0 1.5919E-06
20242 72 Y/H 104 None 0.1241 None gnomAD-4.0.0 2.40064E-06
20245 75 R/Q 107 rs575837567 0.1139 None gnomAD-2.1.1 6.09E-05
20245 75 R/Q 107 rs575837567 0.1139 None gnomAD-3.1.2 1.51272E-04
20245 75 R/Q 107 rs575837567 0.1139 None 1000 genomes 1.99681E-04
20245 75 R/Q 107 rs575837567 0.1139 None gnomAD-4.0.0 3.53281E-05
20247 77 R/I 109 None 0.2775 None gnomAD-4.0.0 6.84328E-07
20247 77 R/K 109 None 0.2775 None gnomAD-4.0.0 6.84328E-07
20247 77 R/T 109 rs1476856391 0.2775 None gnomAD-2.1.1 4.04E-06
20247 77 R/T 109 rs1476856391 0.2775 None gnomAD-4.0.0 6.84328E-07
20251 81 K/E 113 None 0.4365 None gnomAD-4.0.0 1.20032E-06
20251 81 K/M 113 rs1314635889 0.4365 None gnomAD-3.1.2 6.58E-06
20251 81 K/M 113 rs1314635889 0.4365 None gnomAD-4.0.0 6.57575E-06
20251 81 K/N 113 rs756340284 0.4365 None gnomAD-2.1.1 8.07E-06
20251 81 K/N 113 rs756340284 0.4365 None gnomAD-3.1.2 6.58E-06
20251 81 K/N 113 rs756340284 0.4365 None gnomAD-4.0.0 2.56335E-06
20252 82 I/K 114 rs752999797 0.2624 None gnomAD-2.1.1 7.16E-06
20252 82 I/K 114 rs752999797 0.2624 None gnomAD-3.1.2 6.58E-06
20252 82 I/K 114 rs752999797 0.2624 None gnomAD-4.0.0 1.23965E-06
20252 82 I/R 114 None 0.2624 None gnomAD-4.0.0 2.05299E-06
20252 82 I/T 114 rs752999797 0.2624 None gnomAD-2.1.1 8.07E-06
20252 82 I/T 114 rs752999797 0.2624 None gnomAD-3.1.2 6.58E-06
20252 82 I/T 114 rs752999797 0.2624 None gnomAD-4.0.0 6.81809E-06
20253 83 G/A 115 rs370280223 0.1812 None gnomAD-3.1.2 6.58E-06
20253 83 G/A 115 rs370280223 0.1812 None gnomAD-4.0.0 2.56353E-06
20253 83 G/D 115 None 0.1812 None gnomAD-4.0.0 1.59203E-06
20253 83 G/S 115 rs781372817 0.1812 None gnomAD-2.1.1 8.07E-06
20253 83 G/S 115 rs781372817 0.1812 None gnomAD-3.1.2 6.58E-06
20253 83 G/S 115 rs781372817 0.1812 None gnomAD-4.0.0 6.1985E-06
20255 85 G/S 118 rs1248970109 0.1594 None gnomAD-2.1.1 4.04E-06
20255 85 G/S 118 rs1248970109 0.1594 None gnomAD-3.1.2 6.58E-06
20255 85 G/S 118 rs1248970109 0.1594 None gnomAD-4.0.0 2.56367E-06
20256 86 P/L 119 rs1314557712 0.3791 None gnomAD-3.1.2 6.58E-06
20256 86 P/L 119 rs1314557712 0.3791 None gnomAD-4.0.0 6.57843E-06
20259 89 D/N 122 None 0.3204 None gnomAD-4.0.0 1.59217E-06
20260 90 S/F 123 None 0.1375 None gnomAD-4.0.0 1.59225E-06
20261 91 T/I 124 rs555901678 0.7199 None gnomAD-2.1.1 7.16E-06
20261 91 T/I 124 rs555901678 0.7199 None gnomAD-3.1.2 1.97E-05
20261 91 T/I 124 rs555901678 0.7199 None gnomAD-4.0.0 1.7356E-05
20261 91 T/K 124 rs555901678 0.7199 None gnomAD-2.1.1 5.65E-05
20261 91 T/K 124 rs555901678 0.7199 None gnomAD-3.1.2 1.97E-05
20261 91 T/K 124 rs555901678 0.7199 None 1000 genomes 3.99361E-04
20261 91 T/K 124 rs555901678 0.7199 None gnomAD-4.0.0 1.92142E-05
20261 91 T/P 124 rs1343412391 0.7199 None gnomAD-3.1.2 6.58E-06
20261 91 T/P 124 rs1343412391 0.7199 None gnomAD-4.0.0 6.5773E-06
20261 91 T/S 124 rs1343412391 0.7199 None gnomAD-2.1.1 4.03E-06
20263 93 T/A 127 rs886038850 0.2525 None gnomAD-2.1.1 4.03E-06
20263 93 T/A 127 rs886038850 0.2525 None gnomAD-3.1.2 6.58E-06
20263 93 T/A 127 rs886038850 0.2525 None gnomAD-4.0.0 1.85968E-06
20264 94 V/D 128 None 0.3782 None gnomAD-4.0.0 1.20032E-06
20264 94 V/G 128 rs766974366 0.3782 None gnomAD-2.1.1 4.03E-06
20264 94 V/L 128 None 0.3782 None gnomAD-4.0.0 6.84425E-07
20265 95 A/P 130 rs1228007817 0.1260 None gnomAD-2.1.1 4.03E-06
20265 95 A/P 130 rs1228007817 0.1260 None gnomAD-3.1.2 6.58E-06
20265 95 A/P 130 rs1228007817 0.1260 None gnomAD-4.0.0 3.84639E-06
20266 96 K/E 131 rs763212024 0.6878 None gnomAD-2.1.1 1.61E-05
20266 96 K/E 131 rs763212024 0.6878 None gnomAD-3.1.2 2.63E-05
20266 96 K/E 131 rs763212024 0.6878 None gnomAD-4.0.0 6.81953E-06
20267 97 H/R 132 rs2050075865 1.1545 None gnomAD-3.1.2 1.32E-05
20267 97 H/R 132 rs2050075865 1.1545 None gnomAD-4.0.0 1.31508E-05
20267 97 H/Y 132 None 1.1545 None gnomAD-4.0.0 1.20032E-06