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

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
20271 1 P/R 1 rs367633145 0.4925 None gnomAD-3.1.2 1.32E-05
20271 1 P/R 1 rs367633145 0.4925 None gnomAD-4.0.0 3.84882E-06
20271 1 P/T 1 rs886055256 0.4925 None gnomAD-4.0.0 1.59373E-06
20272 2 P/L 2 rs760277470 0.1183 None gnomAD-2.1.1 1.61E-05
20272 2 P/L 2 rs760277470 0.1183 None gnomAD-4.0.0 4.7937E-06
20272 2 P/S 2 rs945591043 0.1183 None gnomAD-3.1.2 1.32E-05
20272 2 P/S 2 rs945591043 0.1183 None gnomAD-4.0.0 1.31517E-05
20273 3 S/F 3 rs72646844 0.1960 None gnomAD-2.1.1 8.07E-06
20273 3 S/F 3 rs72646844 0.1960 None gnomAD-3.1.2 6.58E-06
20273 3 S/F 3 rs72646844 0.1960 None 1000 genomes 1.99681E-04
20273 3 S/F 3 rs72646844 0.1960 None gnomAD-4.0.0 3.10079E-06
20274 4 P/L 4 rs72646845 0.3035 None gnomAD-2.1.1 3.34794E-03
20274 4 P/L 4 rs72646845 0.3035 None gnomAD-3.1.2 1.38743E-03
20274 4 P/L 4 rs72646845 0.3035 None 1000 genomes 2.99521E-03
20274 4 P/L 4 rs72646845 0.3035 None gnomAD-4.0.0 2.03316E-03
20277 7 K/T 7 rs2050069618 0.3481 None gnomAD-4.0.0 2.40064E-06
20278 8 P/L 9 None 0.1292 None gnomAD-4.0.0 1.20032E-06
20278 8 P/S 9 rs774144830 0.1292 None gnomAD-2.1.1 2.86E-05
20278 8 P/S 9 rs774144830 0.1292 None gnomAD-4.0.0 1.9184E-05
20279 9 V/L 11 rs2050067416 0.6062 None gnomAD-4.0.0 6.85258E-07
20279 9 V/M 11 None 0.6062 None gnomAD-4.0.0 3.42629E-06
20280 10 V/A 12 rs1172859699 0.2277 None gnomAD-2.1.1 8.07E-06
20280 10 V/A 12 rs1172859699 0.2277 None gnomAD-4.0.0 4.79232E-06
20281 11 T/I 13 None 0.4869 None gnomAD-4.0.0 1.37074E-06
20282 12 D/E 14 None 0.6218 None gnomAD-4.0.0 1.20032E-06
20283 13 I/V 15 rs1159161091 0.3426 None gnomAD-3.1.2 6.58E-06
20283 13 I/V 15 rs1159161091 0.3426 None gnomAD-4.0.0 4.96691E-06
20284 14 T/A 16 None 0.1683 None gnomAD-4.0.0 1.44039E-05
20285 15 E/K 17 rs1362658901 0.1834 None gnomAD-4.0.0 2.05795E-06
20286 16 N/S 18 rs553761018 0.3912 None gnomAD-2.1.1 4.03E-06
20286 16 N/S 18 rs553761018 0.3912 None gnomAD-3.1.2 6.58E-06
20286 16 N/S 18 rs553761018 0.3912 None 1000 genomes 1.99681E-04
20286 16 N/S 18 rs553761018 0.3912 None gnomAD-4.0.0 2.57472E-06
20287 17 A/T 19 None 0.0979 None gnomAD-4.0.0 1.20032E-06
20288 18 A/G 20 rs370621197 0.1058 None gnomAD-2.1.1 7.16E-06
20288 18 A/G 20 rs370621197 0.1058 None gnomAD-3.1.2 1.32E-05
20288 18 A/G 20 rs370621197 0.1058 None gnomAD-4.0.0 1.30453E-05
20290 20 V/A 22 rs550655820 0.0912 None gnomAD-2.1.1 2.87E-05
20290 20 V/A 22 rs550655820 0.0912 None gnomAD-3.1.2 3.95E-05
20290 20 V/A 22 rs550655820 0.0912 None gnomAD-4.0.0 4.16202E-05
20290 20 V/M 22 None 0.0912 None gnomAD-4.0.0 1.60089E-06
20291 21 S/F 23 None 0.2700 None gnomAD-4.0.0 1.60051E-06
20292 22 W/C 24 rs397517647 0.1256 None gnomAD-2.1.1 4.03E-06
20292 22 W/C 24 rs397517647 0.1256 None gnomAD-3.1.2 6.58E-06
20292 22 W/C 24 rs397517647 0.1256 None gnomAD-4.0.0 6.57713E-06
20292 22 W/R 24 rs748357485 0.1256 None gnomAD-2.1.1 1.61E-05
20292 22 W/R 24 rs748357485 0.1256 None gnomAD-4.0.0 6.85888E-07
20292 22 W/S 24 rs781605494 0.1256 None gnomAD-2.1.1 4.03E-06
20292 22 W/S 24 rs781605494 0.1256 None gnomAD-4.0.0 3.20161E-06
20295 25 P/L 27 rs1208364622 0.1816 None gnomAD-2.1.1 4.03E-06
20295 25 P/L 27 rs1208364622 0.1816 None gnomAD-4.0.0 1.60757E-06
20295 25 P/R 27 rs1208364622 0.1816 None gnomAD-2.1.1 4.03E-06
20295 25 P/R 27 rs1208364622 0.1816 None gnomAD-4.0.0 1.60757E-06
20295 25 P/S 27 None 0.1816 None gnomAD-4.0.0 6.87263E-07
20295 25 P/T 27 None 0.1816 None gnomAD-4.0.0 6.87263E-07
20296 26 K/Q 28 rs755102239 1.0645 None gnomAD-2.1.1 4.03E-06
20296 26 K/Q 28 rs755102239 1.0645 None gnomAD-3.1.2 6.58E-06
20296 26 K/Q 28 rs755102239 1.0645 None gnomAD-4.0.0 6.57575E-06
20298 28 D/G 30 None 0.3010 None gnomAD-4.0.0 6.87291E-07
20298 28 D/Y 30 rs780008017 0.3010 None gnomAD-2.1.1 8.07E-06
20298 28 D/Y 30 rs780008017 0.3010 None gnomAD-4.0.0 3.21642E-06
20301 31 S/G 33 None 0.2282 None gnomAD-4.0.0 1.60873E-06
20302 32 P/L 34 None 0.6875 None gnomAD-4.0.0 1.60886E-06
20305 35 G/V 37 rs750920394 0.1093 None gnomAD-2.1.1 4.04E-06
20305 35 G/V 37 rs750920394 0.1093 None gnomAD-4.0.0 1.60877E-06
20306 36 Y/H 38 None 0.1126 None gnomAD-4.0.0 1.37445E-06
20307 37 Y/C 39 None 0.1629 None gnomAD-4.0.0 6.87165E-07
20307 37 Y/F 39 rs1553643111 0.1629 None gnomAD-4.0.0 1.37433E-06
20308 38 M/T 40 None 0.0834 None gnomAD-4.0.0 1.20032E-06
20310 40 R/C 42 rs200898955 0.2139 None gnomAD-2.1.1 7.17E-05
20310 40 R/C 42 rs200898955 0.2139 None gnomAD-3.1.2 3.95E-05
20310 40 R/C 42 rs200898955 0.2139 None 1000 genomes 1.99681E-04
20310 40 R/C 42 rs200898955 0.2139 None gnomAD-4.0.0 2.42707E-05
20310 40 R/H 42 rs569630571 0.2139 None gnomAD-2.1.1 1.21E-05
20310 40 R/H 42 rs569630571 0.2139 None gnomAD-3.1.2 6.58E-06
20310 40 R/H 42 rs569630571 0.2139 None gnomAD-4.0.0 1.55554E-05
20311 41 R/P 43 rs373062007 0.1982 None gnomAD-4.0.0 1.37439E-06
20311 41 R/Q 43 rs373062007 0.1982 None gnomAD-2.1.1 8.97E-05
20311 41 R/Q 43 rs373062007 0.1982 None gnomAD-3.1.2 7.89E-05
20311 41 R/Q 43 rs373062007 0.1982 None 1000 genomes 1.99681E-04
20311 41 R/Q 43 rs373062007 0.1982 None gnomAD-4.0.0 4.60382E-05
20312 42 E/D 44 rs1337998707 0.2803 None gnomAD-2.1.1 3.19E-05
20312 42 E/D 44 rs1337998707 0.2803 None gnomAD-3.1.2 6.58E-06
20312 42 E/D 44 rs1337998707 0.2803 None gnomAD-4.0.0 6.57514E-06
20312 42 E/K 44 rs759127797 0.2803 None gnomAD-3.1.2 1.32E-05
20312 42 E/K 44 rs759127797 0.2803 None gnomAD-4.0.0 4.35545E-06
20313 43 V/I 50 rs773846604 0.4168 None gnomAD-2.1.1 4.04E-06
20313 43 V/I 50 rs773846604 0.4168 None gnomAD-4.0.0 2.74859E-06
20314 44 T/P 54 None 0.9600 None gnomAD-4.0.0 1.37456E-06
20315 45 G/C 63 None 0.2984 None gnomAD-4.0.0 1.60829E-06
20315 45 G/D 63 rs765839032 0.2984 None gnomAD-2.1.1 1.22E-05
20315 45 G/D 63 rs765839032 0.2984 None gnomAD-3.1.2 6.58E-06
20315 45 G/D 63 rs765839032 0.2984 None gnomAD-4.0.0 2.17837E-05
20315 45 G/V 63 rs765839032 0.2984 None gnomAD-2.1.1 6.38E-05
20315 45 G/V 63 rs765839032 0.2984 None gnomAD-3.1.2 1.97E-05
20315 45 G/V 63 rs765839032 0.2984 None gnomAD-4.0.0 8.71347E-06
20316 46 K/T 64 rs554673070 1.0075 None gnomAD-2.1.1 7.19E-06
20316 46 K/T 64 rs554673070 1.0075 None gnomAD-3.1.2 1.97E-05
20316 46 K/T 64 rs554673070 1.0075 None 1000 genomes 1.99681E-04
20316 46 K/T 64 rs554673070 1.0075 None gnomAD-4.0.0 1.97106E-05
20317 47 W/R 65 None 0.2499 None gnomAD-4.0.0 6.87377E-07
20318 48 V/A 66 rs1559584844 0.5081 None gnomAD-4.0.0 9.60257E-06
20318 48 V/L 66 rs373150402 0.5081 None gnomAD-2.1.1 4.05E-06
20318 48 V/M 66 rs373150402 0.5081 None gnomAD-2.1.1 4.05E-06
20318 48 V/M 66 rs373150402 0.5081 None gnomAD-4.0.0 1.37455E-06
20319 49 R/S 67 None 0.2610 None gnomAD-4.0.0 3.60097E-06
20324 54 P/L 75 None 0.3096 None gnomAD-4.0.0 6.86621E-07
20325 55 I/T 77 None 0.0993 None gnomAD-4.0.0 3.42888E-06
20325 55 I/V 77 rs372353944 0.0993 None gnomAD-4.0.0 1.59991E-06
20326 56 A/T 83 rs370995867 0.7311 None gnomAD-2.1.1 1.21494E-04
20326 56 A/T 83 rs370995867 0.7311 None gnomAD-3.1.2 7.24E-05
20326 56 A/T 83 rs370995867 0.7311 None gnomAD-4.0.0 5.90111E-05
20326 56 A/V 83 rs878985429 0.7311 None gnomAD-2.1.1 3.19E-05
20326 56 A/V 83 rs878985429 0.7311 None gnomAD-3.1.2 1.32E-05
20326 56 A/V 83 rs878985429 0.7311 None gnomAD-4.0.0 3.8596E-06
20327 57 D/E 88 None 0.4416 None gnomAD-4.0.0 6.85362E-07
20329 59 K/N 90 None 0.5364 None gnomAD-4.0.0 2.40064E-06
20330 60 F/C 91 rs780137240 0.2716 None gnomAD-2.1.1 4.04E-06
20330 60 F/C 91 rs780137240 0.2716 None gnomAD-4.0.0 2.40064E-06
20330 60 F/L 91 rs2050031384 0.2716 None gnomAD-2.1.1 2.42E-05
20330 60 F/L 91 rs2050031384 0.2716 None gnomAD-4.0.0 9.58986E-06
20331 61 R/G 92 rs1226541281 0.3810 None gnomAD-2.1.1 4.04E-06
20331 61 R/G 92 rs1226541281 0.3810 None gnomAD-4.0.0 1.5952E-06
20332 62 V/M 93 rs961573875 0.1144 None gnomAD-3.1.2 2.63E-05
20332 62 V/M 93 rs961573875 0.1144 None gnomAD-4.0.0 5.58301E-06
20334 64 G/E 96 rs779468027 0.3576 None gnomAD-2.1.1 4.03E-06
20334 64 G/E 96 rs779468027 0.3576 None gnomAD-4.0.0 1.59411E-06
20334 64 G/R 96 rs2050027400 0.3576 None gnomAD-4.0.0 2.73905E-06
20336 66 Y/C 98 rs1471127612 0.7831 None gnomAD-2.1.1 3.19E-05
20336 66 Y/C 98 rs1471127612 0.7831 None gnomAD-3.1.2 6.57E-06
20336 66 Y/C 98 rs1471127612 0.7831 None gnomAD-4.0.0 6.57488E-06
20338 68 G/R 100 rs2050024015 0.2729 None gnomAD-4.0.0 6.84607E-07
20339 69 N/K 102 None 0.3015 None gnomAD-4.0.0 1.59306E-06
20340 70 T/A 103 rs2050022624 0.2778 None gnomAD-3.1.2 6.58E-06
20340 70 T/A 103 rs2050022624 0.2778 None gnomAD-4.0.0 3.71994E-06
20341 71 Y/C 104 rs2050021727 0.0771 None gnomAD-3.1.2 6.58E-06
20341 71 Y/C 104 rs2050021727 0.0771 None gnomAD-4.0.0 6.57523E-06
20341 71 Y/F 104 None 0.0771 None gnomAD-4.0.0 3.18575E-06
20342 72 E/K 105 rs1015533049 0.1422 None gnomAD-3.1.2 6.58E-06
20342 72 E/K 105 rs1015533049 0.1422 None gnomAD-4.0.0 1.23993E-06
20344 74 R/I 107 None 0.1322 None gnomAD-4.0.0 1.20032E-06
20345 75 V/D 108 None 0.0742 None gnomAD-4.0.0 1.20032E-06
20346 76 F/S 109 rs2050017310 0.1233 None gnomAD-4.0.0 4.77807E-06
20347 77 A/D 110 rs1372719064 0.0776 None gnomAD-3.1.2 1.97E-05
20347 77 A/D 110 rs1372719064 0.0776 None gnomAD-4.0.0 6.81949E-06
20348 78 E/A 111 rs754621313 0.1786 None gnomAD-2.1.1 4.02E-06
20348 78 E/G 111 None 0.1786 None gnomAD-4.0.0 1.20032E-06
20350 80 L/F 113 rs1162158537 0.9472 None gnomAD-2.1.1 4.02E-06
20350 80 L/F 113 rs1162158537 0.9472 None gnomAD-3.1.2 1.32E-05
20350 80 L/F 113 rs1162158537 0.9472 None gnomAD-4.0.0 8.07759E-05
20351 81 A/G 114 None 0.5045 None gnomAD-4.0.0 1.36892E-06
20351 81 A/T 114 None 0.5045 None gnomAD-4.0.0 3.1851E-06
20352 82 G/E 115 None 0.1782 None gnomAD-4.0.0 1.59256E-06
20352 82 G/R 115 rs1223336723 0.1782 None gnomAD-3.1.2 6.58E-06
20352 82 G/R 115 rs1223336723 0.1782 None gnomAD-4.0.0 2.56415E-06
20358 88 P/L 122 rs751194376 0.4297 None gnomAD-2.1.1 4.02E-06
20358 88 P/L 122 rs751194376 0.4297 None gnomAD-3.1.2 6.58E-06
20358 88 P/L 122 rs751194376 0.4297 None gnomAD-4.0.0 5.5795E-06
20358 88 P/S 122 None 0.4297 None gnomAD-4.0.0 1.59266E-06
20359 89 S/G 123 rs762408700 0.3218 None gnomAD-2.1.1 1.61E-05
20359 89 S/G 123 rs762408700 0.3218 None gnomAD-3.1.2 1.97E-05
20359 89 S/G 123 rs762408700 0.3218 None gnomAD-4.0.0 8.67898E-06
20361 91 D/E 125 rs1250284752 0.6680 None gnomAD-2.1.1 4.02E-06
20361 91 D/E 125 rs1250284752 0.6680 None gnomAD-4.0.0 1.59259E-06
20364 94 K/T 129 None 0.5186 None gnomAD-4.0.0 1.59266E-06
20365 95 A/T 130 rs750381165 0.0940 None gnomAD-2.1.1 1.43E-05
20365 95 A/T 130 rs750381165 0.0940 None gnomAD-3.1.2 1.97E-05
20365 95 A/T 130 rs750381165 0.0940 None gnomAD-4.0.0 4.95983E-06
20366 96 C/S 131 rs200101317 0.4218 None gnomAD-2.1.1 2.86E-05
20366 96 C/S 131 rs200101317 0.4218 None gnomAD-3.1.2 3.29E-05
20366 96 C/S 131 rs200101317 0.4218 None gnomAD-4.0.0 2.66591E-05
20366 96 C/Y 131 rs2050006408 0.4218 None gnomAD-4.0.0 1.20032E-06
20367 97 R/Q 132 rs141973925 0.5384 None gnomAD-2.1.1 3.37647E-03
20367 97 R/Q 132 rs141973925 0.5384 None gnomAD-3.1.2 2.91536E-03
20367 97 R/Q 132 rs141973925 0.5384 None 1000 genomes 1.19808E-03
20367 97 R/Q 132 rs141973925 0.5384 None gnomAD-4.0.0 4.50992E-03
20367 97 R/W 132 rs727504479 0.5384 None gnomAD-2.1.1 6.08E-05
20367 97 R/W 132 rs727504479 0.5384 None gnomAD-3.1.2 7.24E-05
20367 97 R/W 132 rs727504479 0.5384 None gnomAD-4.0.0 4.21621E-05