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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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
20173 3 G/R 3 None 0.2312 None gnomAD-4.0.0 1.20032E-06
20175 5 P/L 5 rs771358314 0.1122 None gnomAD-2.1.1 4.83E-05
20175 5 P/L 5 rs771358314 0.1122 None gnomAD-3.1.2 6.58E-06
20175 5 P/L 5 rs771358314 0.1122 None gnomAD-4.0.0 3.28524E-05
20175 5 P/R 5 None 0.1122 None gnomAD-4.0.0 6.84344E-07
20175 5 P/S 5 rs774790016 0.1122 None gnomAD-2.1.1 4.02E-06
20175 5 P/S 5 rs774790016 0.1122 None gnomAD-4.0.0 1.59197E-06
20176 6 T/A 6 None 0.3690 None gnomAD-4.0.0 1.59199E-06
20177 7 G/D 7 rs878911746 0.5011 None gnomAD-4.0.0 2.05304E-06
20178 8 P/R 8 None 0.6965 None gnomAD-4.0.0 1.20032E-06
20179 9 I/V 9 rs1370265685 0.1402 None gnomAD-2.1.1 4.02E-06
20179 9 I/V 9 rs1370265685 0.1402 None gnomAD-4.0.0 1.77932E-05
20180 10 N/H 11 rs1030296243 0.4439 None gnomAD-2.1.1 4.03E-06
20180 10 N/H 11 rs1030296243 0.4439 None gnomAD-3.1.2 6.58E-06
20180 10 N/H 11 rs1030296243 0.4439 None gnomAD-4.0.0 3.71919E-06
20182 12 L/M 13 None 0.4575 None gnomAD-4.0.0 2.40064E-06
20183 13 D/G 14 None 0.3259 None gnomAD-4.0.0 1.5921E-06
20184 14 V/I 15 rs564621227 0.1952 None gnomAD-2.1.1 1.21E-05
20184 14 V/I 15 rs564621227 0.1952 None gnomAD-3.1.2 2.63E-05
20184 14 V/I 15 rs564621227 0.1952 None 1000 genomes 1.99681E-04
20184 14 V/I 15 rs564621227 0.1952 None gnomAD-4.0.0 4.33883E-05
20185 15 T/I 16 None 0.1678 None gnomAD-4.0.0 2.40067E-06
20186 16 P/A 17 rs768019616 0.1489 None gnomAD-2.1.1 4.03E-06
20186 16 P/R 17 rs746586306 0.1489 None gnomAD-2.1.1 4.03E-06
20186 16 P/R 17 rs746586306 0.1489 None gnomAD-4.0.0 1.59211E-06
20187 17 E/Q 18 rs2154184823 0.7431 None gnomAD-4.0.0 1.20032E-06
20188 18 H/R 19 None 0.2470 None gnomAD-4.0.0 1.36877E-06
20188 18 H/Y 19 None 0.2470 None gnomAD-4.0.0 1.59217E-06
20189 19 M/I 20 rs771935490 0.0709 None gnomAD-2.1.1 8.06E-06
20189 19 M/I 20 rs771935490 0.0709 None gnomAD-3.1.2 1.32E-05
20189 19 M/I 20 rs771935490 0.0709 None gnomAD-4.0.0 1.59219E-06
20189 19 M/R 20 None 0.0709 None gnomAD-4.0.0 6.8438E-07
20189 19 M/T 20 rs2050118678 0.0709 None gnomAD-4.0.0 2.73752E-06
20189 19 M/V 20 rs2050119125 0.0709 None gnomAD-4.0.0 4.79064E-06
20191 21 I/L 22 rs745806239 0.0890 None gnomAD-2.1.1 2.01E-05
20191 21 I/L 22 rs745806239 0.0890 None gnomAD-4.0.0 6.84385E-06
20192 22 S/P 23 None 0.1744 None gnomAD-4.0.0 1.59227E-06
20193 23 W/R 24 None 0.1218 None gnomAD-4.0.0 1.20032E-06
20196 26 P/H 27 None 0.1811 None gnomAD-4.0.0 2.40064E-06
20197 27 K/N 28 None 0.9808 None gnomAD-4.0.0 6.84413E-07
20197 27 K/T 28 None 0.9808 None gnomAD-4.0.0 1.20032E-06
20198 28 D/N 29 None 0.4854 None gnomAD-4.0.0 1.20032E-06
20202 32 S/R 33 rs794729468 0.1482 None gnomAD-2.1.1 3.19E-05
20202 32 S/R 33 rs794729468 0.1482 None gnomAD-3.1.2 1.97E-05
20202 32 S/R 33 rs794729468 0.1482 None gnomAD-4.0.0 5.07584E-06
20203 33 P/A 34 None 0.6507 None gnomAD-4.0.0 6.84432E-07
20203 33 P/L 34 rs753978233 0.6507 None gnomAD-2.1.1 4.03E-06
20203 33 P/L 34 rs753978233 0.6507 None gnomAD-4.0.0 1.59246E-06
20203 33 P/S 34 rs757129250 0.6507 None gnomAD-2.1.1 1.79E-05
20203 33 P/S 34 rs757129250 0.6507 None gnomAD-3.1.2 6.58E-06
20203 33 P/S 34 rs757129250 0.6507 None gnomAD-4.0.0 6.19974E-06
20205 35 I/V 36 rs1278691474 0.4156 None gnomAD-2.1.1 3.19E-05
20205 35 I/V 36 rs1278691474 0.4156 None gnomAD-3.1.2 6.58E-06
20205 35 I/V 36 rs1278691474 0.4156 None gnomAD-4.0.0 2.56394E-06
20207 37 Y/H 38 None 0.1258 None gnomAD-4.0.0 1.20032E-06
20208 38 I/T 39 rs752768925 0.2447 None gnomAD-2.1.1 2.15E-05
20208 38 I/T 39 rs752768925 0.2447 None gnomAD-3.1.2 1.97E-05
20208 38 I/T 39 rs752768925 0.2447 None gnomAD-4.0.0 3.90537E-05
20209 39 V/A 40 rs1163844137 0.0990 None gnomAD-2.1.1 4.03E-06
20209 39 V/A 40 rs1163844137 0.0990 None gnomAD-4.0.0 2.73759E-06
20209 39 V/G 40 rs1163844137 0.0990 None gnomAD-2.1.1 4.03E-06
20209 39 V/G 40 rs1163844137 0.0990 None gnomAD-4.0.0 1.36879E-06
20211 41 K/T 42 rs760080560 0.1915 None gnomAD-2.1.1 4.03E-06
20211 41 K/T 42 rs760080560 0.1915 None gnomAD-4.0.0 1.59222E-06
20213 43 D/N 44 rs1186567480 0.1484 None gnomAD-2.1.1 4.03E-06
20213 43 D/N 44 rs1186567480 0.1484 None gnomAD-4.0.0 1.59217E-06
20214 44 T/K 50 None 0.3546 None gnomAD-4.0.0 1.59223E-06
20214 44 T/S 50 rs1358705514 0.3546 None gnomAD-3.1.2 6.58E-06
20214 44 T/S 50 rs1358705514 0.3546 None gnomAD-4.0.0 5.12719E-06
20215 45 R/G 54 rs1223437077 0.5467 None gnomAD-3.1.2 6.57E-06
20215 45 R/G 54 rs1223437077 0.5467 None gnomAD-4.0.0 6.57497E-06
20215 45 R/S 54 rs1248408963 0.5467 None gnomAD-2.1.1 1.21E-05
20215 45 R/S 54 rs1248408963 0.5467 None gnomAD-3.1.2 3.29E-05
20215 45 R/S 54 rs1248408963 0.5467 None gnomAD-4.0.0 1.15371E-05
20218 48 T/A 64 rs766630391 0.6278 None gnomAD-2.1.1 2.42E-05
20218 48 T/A 64 rs766630391 0.6278 None gnomAD-4.0.0 8.89675E-06
20218 48 T/K 64 rs375155937 0.6278 None gnomAD-4.0.0 1.36875E-06
20218 48 T/M 64 rs375155937 0.6278 None gnomAD-2.1.1 2.51E-05
20218 48 T/M 64 rs375155937 0.6278 None gnomAD-3.1.2 1.32E-05
20218 48 T/M 64 rs375155937 0.6278 None gnomAD-4.0.0 9.29821E-06
20219 49 W/L 65 rs372281297 0.3302 None gnomAD-2.1.1 4.03E-06
20220 50 G/A 66 rs1273167845 0.2705 None gnomAD-2.1.1 4.03E-06
20220 50 G/A 66 rs1273167845 0.2705 None gnomAD-4.0.0 6.84362E-07
20220 50 G/D 66 None 0.2705 None gnomAD-4.0.0 6.84362E-07
20220 50 G/R 66 rs1342105365 0.2705 None gnomAD-2.1.1 4.03E-06
20220 50 G/R 66 rs1342105365 0.2705 None gnomAD-4.0.0 1.5921E-06
20221 51 V/A 67 None 0.5178 None gnomAD-4.0.0 1.20033E-06
20221 51 V/I 67 rs2050102457 0.5178 None gnomAD-4.0.0 1.59214E-06
20222 52 V/A 68 None 0.2795 None gnomAD-4.0.0 1.20032E-06
20222 52 V/F 68 rs760330888 0.2795 None gnomAD-2.1.1 4.03E-06
20222 52 V/F 68 rs760330888 0.2795 None gnomAD-4.0.0 1.59211E-06
20225 55 G/E 75 rs1428725715 0.5442 None gnomAD-2.1.1 3.19E-05
20225 55 G/E 75 rs1428725715 0.5442 None gnomAD-3.1.2 6.58E-06
20225 55 G/E 75 rs1428725715 0.5442 None gnomAD-4.0.0 2.56349E-06
20225 55 G/R 75 rs771598189 0.5442 None gnomAD-2.1.1 2.51E-05
20225 55 G/R 75 rs771598189 0.5442 None gnomAD-3.1.2 1.32E-05
20225 55 G/R 75 rs771598189 0.5442 None gnomAD-4.0.0 1.36371E-05
20226 56 S/R 77 None 0.2485 None gnomAD-4.0.0 1.592E-06
20226 56 S/T 77 None 0.2485 None gnomAD-4.0.0 1.20032E-06
20227 57 S/G 83 None 0.5835 None gnomAD-4.0.0 2.40064E-06
20227 57 S/N 83 None 0.5835 None gnomAD-4.0.0 3.18394E-06
20227 57 S/R 83 None 0.5835 None gnomAD-4.0.0 1.20032E-06
20228 58 K/R 88 None 0.7915 None gnomAD-4.0.0 1.592E-06
20229 59 T/A 89 rs747588848 0.2297 None gnomAD-4.0.0 2.73735E-06
20229 59 T/I 89 None 0.2297 None gnomAD-4.0.0 1.59205E-06
20233 63 I/V 93 rs1434582972 0.1006 None gnomAD-2.1.1 4.03E-06
20233 63 I/V 93 rs1434582972 0.1006 None gnomAD-4.0.0 3.18377E-06
20234 64 P/S 94 None 0.3728 None gnomAD-4.0.0 1.20032E-06
20235 65 H/L 96 None 0.8200 None gnomAD-4.0.0 1.20032E-06
20235 65 H/Q 96 rs745785822 0.8200 None gnomAD-2.1.1 5.65E-05
20235 65 H/Q 96 rs745785822 0.8200 None gnomAD-3.1.2 6.58E-06
20235 65 H/Q 96 rs745785822 0.8200 None gnomAD-4.0.0 2.47931E-05
20235 65 H/R 96 rs2050096769 0.8200 None gnomAD-3.1.2 6.58E-06
20235 65 H/R 96 rs2050096769 0.8200 None gnomAD-4.0.0 2.03005E-06
20236 66 L/R 97 rs778953994 0.1150 None gnomAD-2.1.1 4.04E-06
20236 66 L/R 97 rs778953994 0.1150 None gnomAD-3.1.2 6.58E-06
20236 66 L/R 97 rs778953994 0.1150 None gnomAD-4.0.0 6.57592E-06
20237 67 Q/R 98 None 0.5889 None gnomAD-4.0.0 1.5919E-06
20238 68 K/R 99 None 0.7178 None gnomAD-4.0.0 1.20032E-06
20239 69 G/A 100 None 0.3409 None gnomAD-4.0.0 1.20032E-06
20239 69 G/R 100 None 0.3409 None gnomAD-4.0.0 4.10599E-06
20239 69 G/S 100 rs2050095324 0.3409 None gnomAD-3.1.2 6.58E-06
20239 69 G/S 100 rs2050095324 0.3409 None gnomAD-4.0.0 3.719E-06
20240 70 C/R 102 None 0.1199 None gnomAD-4.0.0 4.80129E-06
20240 70 C/Y 102 rs1054918425 0.1199 None gnomAD-2.1.1 4.04E-06
20240 70 C/Y 102 rs1054918425 0.1199 None gnomAD-4.0.0 5.47467E-06
20241 71 E/K 103 None 0.2518 None gnomAD-4.0.0 6.84335E-07
20241 71 E/Q 103 rs200212521 0.2518 None gnomAD-2.1.1 1.20048E-03
20241 71 E/Q 103 rs200212521 0.2518 None gnomAD-3.1.2 1.1243E-03
20241 71 E/Q 103 rs200212521 0.2518 None 1000 genomes 1.99681E-04
20241 71 E/Q 103 rs200212521 0.2518 None gnomAD-4.0.0 1.30959E-03
20242 72 Y/C 104 None 0.0982 None gnomAD-4.0.0 1.5919E-06
20242 72 Y/H 104 None 0.0982 None gnomAD-4.0.0 2.40064E-06
20245 75 R/Q 107 rs575837567 0.1134 None gnomAD-2.1.1 6.09E-05
20245 75 R/Q 107 rs575837567 0.1134 None gnomAD-3.1.2 1.51272E-04
20245 75 R/Q 107 rs575837567 0.1134 None 1000 genomes 1.99681E-04
20245 75 R/Q 107 rs575837567 0.1134 None gnomAD-4.0.0 3.53281E-05
20247 77 R/I 109 None 0.2994 None gnomAD-4.0.0 6.84328E-07
20247 77 R/K 109 None 0.2994 None gnomAD-4.0.0 6.84328E-07
20247 77 R/T 109 rs1476856391 0.2994 None gnomAD-2.1.1 4.04E-06
20247 77 R/T 109 rs1476856391 0.2994 None gnomAD-4.0.0 6.84328E-07
20251 81 K/E 113 None 0.4815 None gnomAD-4.0.0 1.20032E-06
20251 81 K/M 113 rs1314635889 0.4815 None gnomAD-3.1.2 6.58E-06
20251 81 K/M 113 rs1314635889 0.4815 None gnomAD-4.0.0 6.57575E-06
20251 81 K/N 113 rs756340284 0.4815 None gnomAD-2.1.1 8.07E-06
20251 81 K/N 113 rs756340284 0.4815 None gnomAD-3.1.2 6.58E-06
20251 81 K/N 113 rs756340284 0.4815 None gnomAD-4.0.0 2.56335E-06
20252 82 I/K 114 rs752999797 0.2112 None gnomAD-2.1.1 7.16E-06
20252 82 I/K 114 rs752999797 0.2112 None gnomAD-3.1.2 6.58E-06
20252 82 I/K 114 rs752999797 0.2112 None gnomAD-4.0.0 1.23965E-06
20252 82 I/R 114 None 0.2112 None gnomAD-4.0.0 2.05299E-06
20252 82 I/T 114 rs752999797 0.2112 None gnomAD-2.1.1 8.07E-06
20252 82 I/T 114 rs752999797 0.2112 None gnomAD-3.1.2 6.58E-06
20252 82 I/T 114 rs752999797 0.2112 None gnomAD-4.0.0 6.81809E-06
20253 83 G/A 115 rs370280223 0.1811 None gnomAD-3.1.2 6.58E-06
20253 83 G/A 115 rs370280223 0.1811 None gnomAD-4.0.0 2.56353E-06
20253 83 G/D 115 None 0.1811 None gnomAD-4.0.0 1.59203E-06
20253 83 G/S 115 rs781372817 0.1811 None gnomAD-2.1.1 8.07E-06
20253 83 G/S 115 rs781372817 0.1811 None gnomAD-3.1.2 6.58E-06
20253 83 G/S 115 rs781372817 0.1811 None gnomAD-4.0.0 6.1985E-06
20255 85 G/S 118 rs1248970109 0.1554 None gnomAD-2.1.1 4.04E-06
20255 85 G/S 118 rs1248970109 0.1554 None gnomAD-3.1.2 6.58E-06
20255 85 G/S 118 rs1248970109 0.1554 None gnomAD-4.0.0 2.56367E-06
20256 86 P/L 119 rs1314557712 0.3816 None gnomAD-3.1.2 6.58E-06
20256 86 P/L 119 rs1314557712 0.3816 None gnomAD-4.0.0 6.57843E-06
20259 89 D/N 122 None 0.3212 None gnomAD-4.0.0 1.59217E-06
20260 90 S/F 123 None 0.1622 None gnomAD-4.0.0 1.59225E-06
20261 91 T/I 124 rs555901678 0.7633 None gnomAD-2.1.1 7.16E-06
20261 91 T/I 124 rs555901678 0.7633 None gnomAD-3.1.2 1.97E-05
20261 91 T/I 124 rs555901678 0.7633 None gnomAD-4.0.0 1.7356E-05
20261 91 T/K 124 rs555901678 0.7633 None gnomAD-2.1.1 5.65E-05
20261 91 T/K 124 rs555901678 0.7633 None gnomAD-3.1.2 1.97E-05
20261 91 T/K 124 rs555901678 0.7633 None 1000 genomes 3.99361E-04
20261 91 T/K 124 rs555901678 0.7633 None gnomAD-4.0.0 1.92142E-05
20261 91 T/P 124 rs1343412391 0.7633 None gnomAD-3.1.2 6.58E-06
20261 91 T/P 124 rs1343412391 0.7633 None gnomAD-4.0.0 6.5773E-06
20261 91 T/S 124 rs1343412391 0.7633 None gnomAD-2.1.1 4.03E-06
20263 93 T/A 127 rs886038850 0.2711 None gnomAD-2.1.1 4.03E-06
20263 93 T/A 127 rs886038850 0.2711 None gnomAD-3.1.2 6.58E-06
20263 93 T/A 127 rs886038850 0.2711 None gnomAD-4.0.0 1.85968E-06
20264 94 V/D 128 None 0.3040 None gnomAD-4.0.0 1.20032E-06
20264 94 V/G 128 rs766974366 0.3040 None gnomAD-2.1.1 4.03E-06
20264 94 V/L 128 None 0.3040 None gnomAD-4.0.0 6.84425E-07
20265 95 A/P 130 rs1228007817 0.0697 None gnomAD-2.1.1 4.03E-06
20265 95 A/P 130 rs1228007817 0.0697 None gnomAD-3.1.2 6.58E-06
20265 95 A/P 130 rs1228007817 0.0697 None gnomAD-4.0.0 3.84639E-06
20266 96 K/E 131 rs763212024 0.5299 None gnomAD-2.1.1 1.61E-05
20266 96 K/E 131 rs763212024 0.5299 None gnomAD-3.1.2 2.63E-05
20266 96 K/E 131 rs763212024 0.5299 None gnomAD-4.0.0 6.81953E-06
20267 97 H/R 132 rs2050075865 0.6816 None gnomAD-3.1.2 1.32E-05
20267 97 H/R 132 rs2050075865 0.6816 None gnomAD-4.0.0 1.31508E-05
20267 97 H/Y 132 None 0.6816 None gnomAD-4.0.0 1.20032E-06