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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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
20271 1 P/R 1 rs367633145 0.4938 None gnomAD-3.1.2 1.32E-05
20271 1 P/R 1 rs367633145 0.4938 None gnomAD-4.0.0 3.84882E-06
20271 1 P/T 1 rs886055256 0.4938 None gnomAD-4.0.0 1.59373E-06
20272 2 P/L 2 rs760277470 0.1142 None gnomAD-2.1.1 1.61E-05
20272 2 P/L 2 rs760277470 0.1142 None gnomAD-4.0.0 4.7937E-06
20272 2 P/S 2 rs945591043 0.1142 None gnomAD-3.1.2 1.32E-05
20272 2 P/S 2 rs945591043 0.1142 None gnomAD-4.0.0 1.31517E-05
20273 3 S/F 3 rs72646844 0.1854 None gnomAD-2.1.1 8.07E-06
20273 3 S/F 3 rs72646844 0.1854 None gnomAD-3.1.2 6.58E-06
20273 3 S/F 3 rs72646844 0.1854 None 1000 genomes 1.99681E-04
20273 3 S/F 3 rs72646844 0.1854 None gnomAD-4.0.0 3.10079E-06
20274 4 P/L 4 rs72646845 0.2974 None gnomAD-2.1.1 3.34794E-03
20274 4 P/L 4 rs72646845 0.2974 None gnomAD-3.1.2 1.38743E-03
20274 4 P/L 4 rs72646845 0.2974 None 1000 genomes 2.99521E-03
20274 4 P/L 4 rs72646845 0.2974 None gnomAD-4.0.0 2.03316E-03
20277 7 K/T 7 rs2050069618 0.3381 None gnomAD-4.0.0 2.40064E-06
20278 8 P/L 9 None 0.1263 None gnomAD-4.0.0 1.20032E-06
20278 8 P/S 9 rs774144830 0.1263 None gnomAD-2.1.1 2.86E-05
20278 8 P/S 9 rs774144830 0.1263 None gnomAD-4.0.0 1.9184E-05
20279 9 V/L 11 rs2050067416 0.5959 None gnomAD-4.0.0 6.85258E-07
20279 9 V/M 11 None 0.5959 None gnomAD-4.0.0 3.42629E-06
20280 10 V/A 12 rs1172859699 0.2144 None gnomAD-2.1.1 8.07E-06
20280 10 V/A 12 rs1172859699 0.2144 None gnomAD-4.0.0 4.79232E-06
20281 11 T/I 13 None 0.4983 None gnomAD-4.0.0 1.37074E-06
20282 12 D/E 14 None 0.5583 None gnomAD-4.0.0 1.20032E-06
20283 13 I/V 15 rs1159161091 0.2411 None gnomAD-3.1.2 6.58E-06
20283 13 I/V 15 rs1159161091 0.2411 None gnomAD-4.0.0 4.96691E-06
20284 14 T/A 16 None 0.2564 None gnomAD-4.0.0 1.44039E-05
20285 15 E/K 17 rs1362658901 0.3781 None gnomAD-4.0.0 2.05795E-06
20286 16 N/S 18 rs553761018 0.4910 None gnomAD-2.1.1 4.03E-06
20286 16 N/S 18 rs553761018 0.4910 None gnomAD-3.1.2 6.58E-06
20286 16 N/S 18 rs553761018 0.4910 None 1000 genomes 1.99681E-04
20286 16 N/S 18 rs553761018 0.4910 None gnomAD-4.0.0 2.57472E-06
20287 17 A/T 19 None 0.1190 None gnomAD-4.0.0 1.20032E-06
20288 18 A/G 20 rs370621197 0.0978 None gnomAD-2.1.1 7.16E-06
20288 18 A/G 20 rs370621197 0.0978 None gnomAD-3.1.2 1.32E-05
20288 18 A/G 20 rs370621197 0.0978 None gnomAD-4.0.0 1.30453E-05
20290 20 V/A 22 rs550655820 0.0909 None gnomAD-2.1.1 2.87E-05
20290 20 V/A 22 rs550655820 0.0909 None gnomAD-3.1.2 3.95E-05
20290 20 V/A 22 rs550655820 0.0909 None gnomAD-4.0.0 4.16202E-05
20290 20 V/M 22 None 0.0909 None gnomAD-4.0.0 1.60089E-06
20291 21 S/F 23 None 0.2567 None gnomAD-4.0.0 1.60051E-06
20292 22 W/C 24 rs397517647 0.1234 None gnomAD-2.1.1 4.03E-06
20292 22 W/C 24 rs397517647 0.1234 None gnomAD-3.1.2 6.58E-06
20292 22 W/C 24 rs397517647 0.1234 None gnomAD-4.0.0 6.57713E-06
20292 22 W/R 24 rs748357485 0.1234 None gnomAD-2.1.1 1.61E-05
20292 22 W/R 24 rs748357485 0.1234 None gnomAD-4.0.0 6.85888E-07
20292 22 W/S 24 rs781605494 0.1234 None gnomAD-2.1.1 4.03E-06
20292 22 W/S 24 rs781605494 0.1234 None gnomAD-4.0.0 3.20161E-06
20295 25 P/L 27 rs1208364622 0.1646 None gnomAD-2.1.1 4.03E-06
20295 25 P/L 27 rs1208364622 0.1646 None gnomAD-4.0.0 1.60757E-06
20295 25 P/R 27 rs1208364622 0.1646 None gnomAD-2.1.1 4.03E-06
20295 25 P/R 27 rs1208364622 0.1646 None gnomAD-4.0.0 1.60757E-06
20295 25 P/S 27 None 0.1646 None gnomAD-4.0.0 6.87263E-07
20295 25 P/T 27 None 0.1646 None gnomAD-4.0.0 6.87263E-07
20296 26 K/Q 28 rs755102239 1.0641 None gnomAD-2.1.1 4.03E-06
20296 26 K/Q 28 rs755102239 1.0641 None gnomAD-3.1.2 6.58E-06
20296 26 K/Q 28 rs755102239 1.0641 None gnomAD-4.0.0 6.57575E-06
20298 28 D/G 30 None 0.3113 None gnomAD-4.0.0 6.87291E-07
20298 28 D/Y 30 rs780008017 0.3113 None gnomAD-2.1.1 8.07E-06
20298 28 D/Y 30 rs780008017 0.3113 None gnomAD-4.0.0 3.21642E-06
20301 31 S/G 33 None 0.2273 None gnomAD-4.0.0 1.60873E-06
20302 32 P/L 34 None 0.6999 None gnomAD-4.0.0 1.60886E-06
20305 35 G/V 37 rs750920394 0.1190 None gnomAD-2.1.1 4.04E-06
20305 35 G/V 37 rs750920394 0.1190 None gnomAD-4.0.0 1.60877E-06
20306 36 Y/H 38 None 0.1146 None gnomAD-4.0.0 1.37445E-06
20307 37 Y/C 39 None 0.1733 None gnomAD-4.0.0 6.87165E-07
20307 37 Y/F 39 rs1553643111 0.1733 None gnomAD-4.0.0 1.37433E-06
20308 38 M/T 40 None 0.0761 None gnomAD-4.0.0 1.20032E-06
20310 40 R/C 42 rs200898955 0.1907 None gnomAD-2.1.1 7.17E-05
20310 40 R/C 42 rs200898955 0.1907 None gnomAD-3.1.2 3.95E-05
20310 40 R/C 42 rs200898955 0.1907 None 1000 genomes 1.99681E-04
20310 40 R/C 42 rs200898955 0.1907 None gnomAD-4.0.0 2.42707E-05
20310 40 R/H 42 rs569630571 0.1907 None gnomAD-2.1.1 1.21E-05
20310 40 R/H 42 rs569630571 0.1907 None gnomAD-3.1.2 6.58E-06
20310 40 R/H 42 rs569630571 0.1907 None gnomAD-4.0.0 1.55554E-05
20311 41 R/P 43 rs373062007 0.2285 None gnomAD-4.0.0 1.37439E-06
20311 41 R/Q 43 rs373062007 0.2285 None gnomAD-2.1.1 8.97E-05
20311 41 R/Q 43 rs373062007 0.2285 None gnomAD-3.1.2 7.89E-05
20311 41 R/Q 43 rs373062007 0.2285 None 1000 genomes 1.99681E-04
20311 41 R/Q 43 rs373062007 0.2285 None gnomAD-4.0.0 4.60382E-05
20312 42 E/D 44 rs1337998707 0.2848 None gnomAD-2.1.1 3.19E-05
20312 42 E/D 44 rs1337998707 0.2848 None gnomAD-3.1.2 6.58E-06
20312 42 E/D 44 rs1337998707 0.2848 None gnomAD-4.0.0 6.57514E-06
20312 42 E/K 44 rs759127797 0.2848 None gnomAD-3.1.2 1.32E-05
20312 42 E/K 44 rs759127797 0.2848 None gnomAD-4.0.0 4.35545E-06
20313 43 V/I 50 rs773846604 0.4529 None gnomAD-2.1.1 4.04E-06
20313 43 V/I 50 rs773846604 0.4529 None gnomAD-4.0.0 2.74859E-06
20314 44 T/P 54 None 0.9534 None gnomAD-4.0.0 1.37456E-06
20315 45 G/C 63 None 0.3237 None gnomAD-4.0.0 1.60829E-06
20315 45 G/D 63 rs765839032 0.3237 None gnomAD-2.1.1 1.22E-05
20315 45 G/D 63 rs765839032 0.3237 None gnomAD-3.1.2 6.58E-06
20315 45 G/D 63 rs765839032 0.3237 None gnomAD-4.0.0 2.17837E-05
20315 45 G/V 63 rs765839032 0.3237 None gnomAD-2.1.1 6.38E-05
20315 45 G/V 63 rs765839032 0.3237 None gnomAD-3.1.2 1.97E-05
20315 45 G/V 63 rs765839032 0.3237 None gnomAD-4.0.0 8.71347E-06
20316 46 K/T 64 rs554673070 0.9727 None gnomAD-2.1.1 7.19E-06
20316 46 K/T 64 rs554673070 0.9727 None gnomAD-3.1.2 1.97E-05
20316 46 K/T 64 rs554673070 0.9727 None 1000 genomes 1.99681E-04
20316 46 K/T 64 rs554673070 0.9727 None gnomAD-4.0.0 1.97106E-05
20317 47 W/R 65 None 0.2436 None gnomAD-4.0.0 6.87377E-07
20318 48 V/A 66 rs1559584844 0.5509 None gnomAD-4.0.0 9.60257E-06
20318 48 V/L 66 rs373150402 0.5509 None gnomAD-2.1.1 4.05E-06
20318 48 V/M 66 rs373150402 0.5509 None gnomAD-2.1.1 4.05E-06
20318 48 V/M 66 rs373150402 0.5509 None gnomAD-4.0.0 1.37455E-06
20319 49 R/S 67 None 0.3568 None gnomAD-4.0.0 3.60097E-06
20324 54 P/L 75 None 0.3463 None gnomAD-4.0.0 6.86621E-07
20325 55 I/T 77 None 0.0958 None gnomAD-4.0.0 3.42888E-06
20325 55 I/V 77 rs372353944 0.0958 None gnomAD-4.0.0 1.59991E-06
20326 56 A/T 83 rs370995867 0.7253 None gnomAD-2.1.1 1.21494E-04
20326 56 A/T 83 rs370995867 0.7253 None gnomAD-3.1.2 7.24E-05
20326 56 A/T 83 rs370995867 0.7253 None gnomAD-4.0.0 5.90111E-05
20326 56 A/V 83 rs878985429 0.7253 None gnomAD-2.1.1 3.19E-05
20326 56 A/V 83 rs878985429 0.7253 None gnomAD-3.1.2 1.32E-05
20326 56 A/V 83 rs878985429 0.7253 None gnomAD-4.0.0 3.8596E-06
20327 57 D/E 88 None 0.4410 None gnomAD-4.0.0 6.85362E-07
20329 59 K/N 90 None 0.5600 None gnomAD-4.0.0 2.40064E-06
20330 60 F/C 91 rs780137240 0.2500 None gnomAD-2.1.1 4.04E-06
20330 60 F/C 91 rs780137240 0.2500 None gnomAD-4.0.0 2.40064E-06
20330 60 F/L 91 rs2050031384 0.2500 None gnomAD-2.1.1 2.42E-05
20330 60 F/L 91 rs2050031384 0.2500 None gnomAD-4.0.0 9.58986E-06
20331 61 R/G 92 rs1226541281 0.4449 None gnomAD-2.1.1 4.04E-06
20331 61 R/G 92 rs1226541281 0.4449 None gnomAD-4.0.0 1.5952E-06
20332 62 V/M 93 rs961573875 0.1083 None gnomAD-3.1.2 2.63E-05
20332 62 V/M 93 rs961573875 0.1083 None gnomAD-4.0.0 5.58301E-06
20334 64 G/E 96 rs779468027 0.3563 None gnomAD-2.1.1 4.03E-06
20334 64 G/E 96 rs779468027 0.3563 None gnomAD-4.0.0 1.59411E-06
20334 64 G/R 96 rs2050027400 0.3563 None gnomAD-4.0.0 2.73905E-06
20336 66 Y/C 98 rs1471127612 0.7656 None gnomAD-2.1.1 3.19E-05
20336 66 Y/C 98 rs1471127612 0.7656 None gnomAD-3.1.2 6.57E-06
20336 66 Y/C 98 rs1471127612 0.7656 None gnomAD-4.0.0 6.57488E-06
20338 68 G/R 100 rs2050024015 0.2905 None gnomAD-4.0.0 6.84607E-07
20339 69 N/K 102 None 0.2982 None gnomAD-4.0.0 1.59306E-06
20340 70 T/A 103 rs2050022624 0.2632 None gnomAD-3.1.2 6.58E-06
20340 70 T/A 103 rs2050022624 0.2632 None gnomAD-4.0.0 3.71994E-06
20341 71 Y/C 104 rs2050021727 0.0710 None gnomAD-3.1.2 6.58E-06
20341 71 Y/C 104 rs2050021727 0.0710 None gnomAD-4.0.0 6.57523E-06
20341 71 Y/F 104 None 0.0710 None gnomAD-4.0.0 3.18575E-06
20342 72 E/K 105 rs1015533049 0.1528 None gnomAD-3.1.2 6.58E-06
20342 72 E/K 105 rs1015533049 0.1528 None gnomAD-4.0.0 1.23993E-06
20344 74 R/I 107 None 0.1211 None gnomAD-4.0.0 1.20032E-06
20345 75 V/D 108 None 0.0695 None gnomAD-4.0.0 1.20032E-06
20346 76 F/S 109 rs2050017310 0.1277 None gnomAD-4.0.0 4.77807E-06
20347 77 A/D 110 rs1372719064 0.0821 None gnomAD-3.1.2 1.97E-05
20347 77 A/D 110 rs1372719064 0.0821 None gnomAD-4.0.0 6.81949E-06
20348 78 E/A 111 rs754621313 0.2015 None gnomAD-2.1.1 4.02E-06
20348 78 E/G 111 None 0.2015 None gnomAD-4.0.0 1.20032E-06
20350 80 L/F 113 rs1162158537 0.9958 None gnomAD-2.1.1 4.02E-06
20350 80 L/F 113 rs1162158537 0.9958 None gnomAD-3.1.2 1.32E-05
20350 80 L/F 113 rs1162158537 0.9958 None gnomAD-4.0.0 8.07759E-05
20351 81 A/G 114 None 0.4764 None gnomAD-4.0.0 1.36892E-06
20351 81 A/T 114 None 0.4764 None gnomAD-4.0.0 3.1851E-06
20352 82 G/E 115 None 0.1884 None gnomAD-4.0.0 1.59256E-06
20352 82 G/R 115 rs1223336723 0.1884 None gnomAD-3.1.2 6.58E-06
20352 82 G/R 115 rs1223336723 0.1884 None gnomAD-4.0.0 2.56415E-06
20358 88 P/L 122 rs751194376 0.4142 None gnomAD-2.1.1 4.02E-06
20358 88 P/L 122 rs751194376 0.4142 None gnomAD-3.1.2 6.58E-06
20358 88 P/L 122 rs751194376 0.4142 None gnomAD-4.0.0 5.5795E-06
20358 88 P/S 122 None 0.4142 None gnomAD-4.0.0 1.59266E-06
20359 89 S/G 123 rs762408700 0.3242 None gnomAD-2.1.1 1.61E-05
20359 89 S/G 123 rs762408700 0.3242 None gnomAD-3.1.2 1.97E-05
20359 89 S/G 123 rs762408700 0.3242 None gnomAD-4.0.0 8.67898E-06
20361 91 D/E 125 rs1250284752 0.6678 None gnomAD-2.1.1 4.02E-06
20361 91 D/E 125 rs1250284752 0.6678 None gnomAD-4.0.0 1.59259E-06
20364 94 K/T 129 None 0.4692 None gnomAD-4.0.0 1.59266E-06
20365 95 A/T 130 rs750381165 0.0783 None gnomAD-2.1.1 1.43E-05
20365 95 A/T 130 rs750381165 0.0783 None gnomAD-3.1.2 1.97E-05
20365 95 A/T 130 rs750381165 0.0783 None gnomAD-4.0.0 4.95983E-06
20366 96 C/S 131 rs200101317 0.2610 None gnomAD-2.1.1 2.86E-05
20366 96 C/S 131 rs200101317 0.2610 None gnomAD-3.1.2 3.29E-05
20366 96 C/S 131 rs200101317 0.2610 None gnomAD-4.0.0 2.66591E-05
20366 96 C/Y 131 rs2050006408 0.2610 None gnomAD-4.0.0 1.20032E-06
20367 97 R/Q 132 rs141973925 0.5459 None gnomAD-2.1.1 3.37647E-03
20367 97 R/Q 132 rs141973925 0.5459 None gnomAD-3.1.2 2.91536E-03
20367 97 R/Q 132 rs141973925 0.5459 None 1000 genomes 1.19808E-03
20367 97 R/Q 132 rs141973925 0.5459 None gnomAD-4.0.0 4.50992E-03
20367 97 R/W 132 rs727504479 0.5459 None gnomAD-2.1.1 6.08E-05
20367 97 R/W 132 rs727504479 0.5459 None gnomAD-3.1.2 7.24E-05
20367 97 R/W 132 rs727504479 0.5459 None gnomAD-4.0.0 4.21621E-05