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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
9397 1 P/L 1 rs1359908699 0.2051 None gnomAD-2.1.1 3.19E-05
9397 1 P/L 1 rs1359908699 0.2051 None gnomAD-3.1.2 6.57E-06
9397 1 P/L 1 rs1359908699 0.2051 None gnomAD-4.0.0 6.5735E-06
9397 1 P/S 1 rs1446166655 0.2051 None gnomAD-2.1.1 3.18E-05
9397 1 P/S 1 rs1446166655 0.2051 None gnomAD-4.0.0 1.593E-06
9398 2 F/C 2 None 0.4229 None gnomAD-4.0.0 6.84471E-07
9398 2 F/I 2 rs1299415103 0.4229 None gnomAD-3.1.2 6.57E-06
9398 2 F/I 2 rs1299415103 0.4229 None gnomAD-4.0.0 2.56384E-06
9398 2 F/Y 2 None 0.4229 None gnomAD-4.0.0 6.84471E-07
9399 3 F/I 3 None 0.0907 None gnomAD-4.0.0 1.20032E-06
9400 4 D/G 4 rs1254441947 0.2967 None gnomAD-2.1.1 4.03E-06
9400 4 D/G 4 rs1254441947 0.2967 None gnomAD-3.1.2 1.31E-05
9400 4 D/G 4 rs1254441947 0.2967 None gnomAD-4.0.0 1.23978E-05
9400 4 D/H 4 None 0.2967 None gnomAD-4.0.0 6.84467E-07
9401 5 I/F 5 None 0.4571 None gnomAD-4.0.0 1.59235E-06
9402 6 R/C 7 rs369553799 0.4406 None gnomAD-2.1.1 3.22E-05
9402 6 R/C 7 rs369553799 0.4406 None gnomAD-3.1.2 2.63E-05
9402 6 R/C 7 rs369553799 0.4406 None gnomAD-4.0.0 2.60337E-05
9402 6 R/G 7 None 0.4406 None gnomAD-4.0.0 6.84397E-07
9402 6 R/H 7 rs773986121 0.4406 None gnomAD-2.1.1 6.08E-05
9402 6 R/H 7 rs773986121 0.4406 None gnomAD-3.1.2 5.26E-05
9402 6 R/H 7 rs773986121 0.4406 None gnomAD-4.0.0 3.40917E-05
9402 6 R/L 7 None 0.4406 None gnomAD-4.0.0 3.42187E-06
9403 7 L/V 8 rs752742472 0.1650 None gnomAD-2.1.1 8.06E-06
9403 7 L/V 8 rs752742472 0.1650 None gnomAD-4.0.0 2.73738E-06
9404 8 A/P 9 None 0.5343 None gnomAD-4.0.0 1.36858E-06
9404 8 A/V 9 rs1238309373 0.5343 None gnomAD-4.0.0 2.05287E-06
9406 10 V/M 13 rs1280284347 0.1926 None gnomAD-2.1.1 4.03E-06
9406 10 V/M 13 rs1280284347 0.1926 None gnomAD-4.0.0 1.59116E-06
9408 12 A/T 16 rs767417518 0.1741 None gnomAD-2.1.1 4.03E-06
9408 12 A/T 16 rs767417518 0.1741 None gnomAD-3.1.2 6.57E-06
9408 12 A/T 16 rs767417518 0.1741 None gnomAD-4.0.0 3.04472E-06
9409 13 V/A 18 None 0.4606 None gnomAD-4.0.0 1.20032E-06
9409 13 V/M 18 rs1239606732 0.4606 None gnomAD-2.1.1 7.15E-06
9409 13 V/M 18 rs1239606732 0.4606 None gnomAD-3.1.2 1.97E-05
9409 13 V/M 18 rs1239606732 0.4606 None gnomAD-4.0.0 8.05552E-06
9411 15 G/E 24 rs563866126 0.3769 None gnomAD-2.1.1 2.14E-05
9411 15 G/E 24 rs563866126 0.3769 None gnomAD-3.1.2 5.91E-05
9411 15 G/E 24 rs563866126 0.3769 None 1000 genomes 1.99681E-04
9411 15 G/E 24 rs563866126 0.3769 None gnomAD-4.0.0 1.05335E-05
9412 16 E/G 25 rs766534072 0.5209 None gnomAD-2.1.1 4.02E-06
9412 16 E/G 25 rs766534072 0.5209 None gnomAD-4.0.0 1.36834E-06
9414 18 A/V 28 None 0.1486 None gnomAD-4.0.0 1.20032E-06
9415 19 D/E 29 rs2076551495 0.5004 None gnomAD-3.1.2 6.57E-06
9415 19 D/E 29 rs2076551495 0.5004 None gnomAD-4.0.0 1.59109E-06
9416 20 F/L 30 None 0.1132 None gnomAD-4.0.0 6.84173E-07
9416 20 F/S 30 None 0.1132 None gnomAD-4.0.0 6.84174E-07
9416 20 F/Y 30 rs879120584 0.1132 None gnomAD-2.1.1 7.14E-06
9416 20 F/Y 30 rs879120584 0.1132 None gnomAD-3.1.2 1.97E-05
9416 20 F/Y 30 rs879120584 0.1132 None gnomAD-4.0.0 6.19678E-06
9417 21 E/D 31 rs773169301 0.4609 None gnomAD-2.1.1 8.04E-06
9417 21 E/D 31 rs773169301 0.4609 None gnomAD-3.1.2 1.31E-05
9417 21 E/D 31 rs773169301 0.4609 None gnomAD-4.0.0 3.09838E-06
9418 22 C/R 33 rs770276972 0.0945 None gnomAD-2.1.1 4.02E-06
9418 22 C/R 33 rs770276972 0.0945 None gnomAD-4.0.0 7.95532E-06
9419 23 H/Q 34 rs762212243 0.2015 None gnomAD-2.1.1 4.02E-06
9419 23 H/Q 34 rs762212243 0.2015 None gnomAD-4.0.0 6.84175E-07
9420 24 V/G 35 None 0.0939 None gnomAD-4.0.0 1.59106E-06
9420 24 V/I 35 rs777186750 0.0939 None gnomAD-2.1.1 2.5E-05
9420 24 V/I 35 rs777186750 0.0939 None gnomAD-3.1.2 1.31E-05
9420 24 V/I 35 rs777186750 0.0939 None gnomAD-4.0.0 3.71812E-06
9421 25 T/M 38 rs375209383 0.3206 None gnomAD-2.1.1 8.56E-05
9421 25 T/M 38 rs375209383 0.3206 None gnomAD-3.1.2 4.6E-05
9421 25 T/M 38 rs375209383 0.3206 None gnomAD-4.0.0 7.18783E-05
9421 25 T/S 38 None 0.3206 None gnomAD-4.0.0 1.20032E-06
9423 27 T/I 41 None 0.6481 None gnomAD-4.0.0 1.20032E-06
9424 28 Q/K 42 rs748778927 0.4312 None gnomAD-2.1.1 7.13E-06
9424 28 Q/K 42 rs748778927 0.4312 None gnomAD-3.1.2 6.57E-06
9424 28 Q/K 42 rs748778927 0.4312 None gnomAD-4.0.0 4.33777E-06
9425 29 P/L 43 rs755720364 0.7524 None gnomAD-2.1.1 8.03E-06
9425 29 P/L 43 rs755720364 0.7524 None gnomAD-3.1.2 6.58E-06
9425 29 P/L 43 rs755720364 0.7524 None gnomAD-4.0.0 4.33788E-06
9425 29 P/R 43 rs755720364 0.7524 None gnomAD-2.1.1 8.03E-06
9425 29 P/R 43 rs755720364 0.7524 None gnomAD-4.0.0 1.36832E-06
9425 29 P/S 43 None 0.7524 None gnomAD-4.0.0 1.59102E-06
9426 30 I/T 44 None 0.1413 None gnomAD-4.0.0 3.4208E-06
9427 31 K/N 45 rs1207669528 0.7484 None gnomAD-3.1.2 6.57E-06
9427 31 K/N 45 rs1207669528 0.7484 None gnomAD-4.0.0 6.84161E-07
9428 32 V/F 46 None 0.2442 None gnomAD-4.0.0 5.47328E-06
9428 32 V/I 46 rs1284963573 0.2442 None gnomAD-2.1.1 8.03E-06
9428 32 V/I 46 rs1284963573 0.2442 None gnomAD-4.0.0 4.78912E-06
9428 32 V/L 46 rs1284963573 0.2442 None gnomAD-2.1.1 3.18E-05
9428 32 V/L 46 rs1284963573 0.2442 None gnomAD-3.1.2 1.31E-05
9428 32 V/L 46 rs1284963573 0.2442 None gnomAD-4.0.0 1.31449E-05
9432 36 K/T 50 None 0.1021 None gnomAD-4.0.0 1.20032E-06
9433 37 D/E 51 rs372608982 0.4113 None gnomAD-2.1.1 4.82E-05
9433 37 D/E 51 rs372608982 0.4113 None gnomAD-3.1.2 3.94E-05
9433 37 D/E 51 rs372608982 0.4113 None gnomAD-4.0.0 2.29276E-05
9433 37 D/G 51 rs1441669143 0.4113 None gnomAD-3.1.2 6.57E-06
9433 37 D/G 51 rs1441669143 0.4113 None gnomAD-4.0.0 6.57091E-06
9433 37 D/H 51 rs781329594 0.4113 None gnomAD-2.1.1 4.02E-06
9433 37 D/H 51 rs781329594 0.4113 None gnomAD-4.0.0 1.59099E-06
9434 38 S/I 52 rs751432055 0.8057 None gnomAD-2.1.1 4.02E-06
9434 38 S/I 52 rs751432055 0.8057 None gnomAD-4.0.0 1.36832E-06
9434 38 S/R 52 None 0.8057 None gnomAD-4.0.0 1.59099E-06
9435 39 R/G 55 rs1355846496 0.7809 None gnomAD-2.1.1 4.02E-06
9435 39 R/G 55 rs1355846496 0.7809 None gnomAD-4.0.0 1.59099E-06
9436 40 E/D 56 rs906433178 0.6174 None gnomAD-3.1.2 1.31E-05
9436 40 E/D 56 rs906433178 0.6174 None gnomAD-4.0.0 1.85895E-06
9436 40 E/Q 56 None 0.6174 None gnomAD-4.0.0 1.20032E-06
9437 41 I/T 58 rs1277389231 0.1102 None gnomAD-2.1.1 4.01E-06
9437 41 I/T 58 rs1277389231 0.1102 None gnomAD-4.0.0 1.59098E-06
9438 42 R/Q 59 rs72648998 0.7581 None gnomAD-2.1.1 4.68935E-02
9438 42 R/Q 59 rs72648998 0.7581 None gnomAD-3.1.2 4.08323E-02
9438 42 R/Q 59 rs72648998 0.7581 None 1000 genomes 2.73562E-02
9438 42 R/Q 59 rs72648998 0.7581 None gnomAD-4.0.0 5.42117E-02
9439 43 S/N 70 None 0.4934 None gnomAD-4.0.0 4.77295E-06
9440 44 G/R 73 rs940069606 0.4703 None gnomAD-4.0.0 1.20032E-06
9441 45 G/A 111 None 0.7394 None gnomAD-4.0.0 1.20033E-06
9441 45 G/R 111 rs397517529 0.7394 None gnomAD-2.1.1 1.61E-05
9441 45 G/R 111 rs397517529 0.7394 None gnomAD-3.1.2 6.58E-06
9441 45 G/R 111 rs397517529 0.7394 None gnomAD-4.0.0 8.05581E-06
9444 48 Q/R 122 None 0.6302 None gnomAD-4.0.0 1.20032E-06
9446 50 S/N 125 rs762605364 0.4172 None gnomAD-4.0.0 2.05249E-06
9446 50 S/T 125 None 0.4172 None gnomAD-4.0.0 6.84163E-07
9447 51 Y/C 127 None 0.3173 None gnomAD-4.0.0 1.591E-06
9447 51 Y/H 127 rs1051050691 0.3173 None gnomAD-2.1.1 4.02E-06
9447 51 Y/H 127 rs1051050691 0.3173 None gnomAD-4.0.0 4.10499E-06
9450 54 N/K 134 None 0.3426 None gnomAD-4.0.0 1.20032E-06
9450 54 N/S 134 None 0.3426 None gnomAD-4.0.0 1.20032E-06
9450 54 N/T 134 rs2076533329 0.3426 None gnomAD-3.1.2 6.57E-06
9450 54 N/T 134 rs2076533329 0.3426 None gnomAD-4.0.0 6.57186E-06
9451 55 S/R 135 rs777096848 0.1884 None gnomAD-2.1.1 4.02E-06
9451 55 S/R 135 rs777096848 0.1884 None gnomAD-4.0.0 6.84188E-07
9452 56 A/P 136 rs527663092 0.0908 None gnomAD-2.1.1 1.61E-05
9452 56 A/P 136 rs527663092 0.0908 None gnomAD-4.0.0 8.89436E-06
9452 56 A/T 136 rs527663092 0.0908 None gnomAD-2.1.1 6.02E-05
9452 56 A/T 136 rs527663092 0.0908 None gnomAD-3.1.2 7.23E-05
9452 56 A/T 136 rs527663092 0.0908 None 1000 genomes 1.99681E-04
9452 56 A/T 136 rs527663092 0.0908 None gnomAD-4.0.0 3.65595E-05
9453 57 H/Q 137 None 0.3529 None gnomAD-4.0.0 6.84184E-07
9456 60 V/A 140 rs1185144865 0.0990 None gnomAD-2.1.1 4.02E-06
9456 60 V/A 140 rs1185144865 0.0990 None gnomAD-4.0.0 1.59117E-06
9456 60 V/F 140 rs772549192 0.0990 None gnomAD-2.1.1 4.02E-06
9456 60 V/F 140 rs772549192 0.0990 None gnomAD-4.0.0 4.80129E-06
9457 61 L/V 141 None 0.4874 None gnomAD-4.0.0 2.40064E-06
9459 63 V/A 144 rs541910545 0.1139 None gnomAD-2.1.1 8.03E-06
9459 63 V/A 144 rs541910545 0.1139 None gnomAD-3.1.2 1.31E-05
9459 63 V/A 144 rs541910545 0.1139 None 1000 genomes 1.99681E-04
9459 63 V/A 144 rs541910545 0.1139 None gnomAD-4.0.0 2.47867E-06
9460 64 D/H 145 None 0.3421 None gnomAD-4.0.0 1.59137E-06
9461 65 K/E 146 None 0.8918 None gnomAD-4.0.0 1.20032E-06
9462 66 G/E 148 rs866946485 0.3670 None gnomAD-2.1.1 4.02E-06
9462 66 G/V 148 None 0.3670 None gnomAD-3.1.2 6.57E-06
9462 66 G/V 148 None 0.3670 None gnomAD-4.0.0 6.57272E-06
9463 67 D/N 149 rs769166539 0.1316 None gnomAD-2.1.1 4.02E-06
9463 67 D/N 149 rs769166539 0.1316 None gnomAD-3.1.2 6.57E-06
9463 67 D/N 149 rs769166539 0.1316 None gnomAD-4.0.0 6.56996E-06
9463 67 D/Y 149 rs769166539 0.1316 None gnomAD-2.1.1 4.02E-06
9463 67 D/Y 149 rs769166539 0.1316 None gnomAD-4.0.0 1.59157E-06
9465 69 G/E 152 rs553570568 0.1275 None gnomAD-2.1.1 4.02E-06
9465 69 G/E 152 rs553570568 0.1275 None gnomAD-4.0.0 1.64237E-05
9465 69 G/R 152 rs747684566 0.1275 None gnomAD-2.1.1 4.02E-06
9465 69 G/R 152 rs747684566 0.1275 None gnomAD-4.0.0 6.84308E-07
9466 70 Q/K 153 None 0.5465 None gnomAD-4.0.0 1.36865E-06
9466 70 Q/P 153 rs1215467586 0.5465 None gnomAD-2.1.1 4.02E-06
9466 70 Q/P 153 rs1215467586 0.5465 None gnomAD-4.0.0 1.36865E-06
9467 71 Y/H 154 rs2076528608 0.0887 None gnomAD-4.0.0 1.36866E-06
9468 72 T/I 155 None 0.1291 None gnomAD-4.0.0 1.59206E-06
9468 72 T/S 155 rs1241585388 0.1291 None gnomAD-3.1.2 1.31E-05
9468 72 T/S 155 rs1241585388 0.1291 None gnomAD-4.0.0 1.31413E-05
9470 74 Y/C 157 rs781236320 0.4077 None gnomAD-2.1.1 4.02E-06
9471 75 A/G 158 None 0.1063 None gnomAD-4.0.0 6.8445E-07
9471 75 A/S 158 rs2076526997 0.1063 None gnomAD-4.0.0 6.84433E-07
9471 75 A/T 158 None 0.1063 None gnomAD-4.0.0 6.84433E-07
9472 76 V/G 159 rs1257120493 0.3641 None gnomAD-2.1.1 1.2E-05
9472 76 V/G 159 rs1257120493 0.3641 None gnomAD-4.0.0 3.4225E-06
9472 76 V/L 159 None 0.3641 None gnomAD-4.0.0 1.20032E-05
9473 77 N/H 161 None 0.1486 None gnomAD-4.0.0 3.18585E-06
9473 77 N/S 161 rs2076526398 0.1486 None gnomAD-4.0.0 1.59291E-06
9475 79 V/E 163 None 0.8151 None gnomAD-4.0.0 1.5934E-06
9475 79 V/G 163 rs1363580617 0.8151 None gnomAD-2.1.1 1.07E-05
9475 79 V/G 163 rs1363580617 0.8151 None gnomAD-3.1.2 6.57E-06
9475 79 V/G 163 rs1363580617 0.8151 None gnomAD-4.0.0 3.84761E-06
9475 79 V/L 163 rs754971247 0.8151 None gnomAD-2.1.1 8.03E-06
9475 79 V/L 163 rs754971247 0.8151 None gnomAD-4.0.0 3.18667E-06
9476 80 G/V 164 None 0.2333 None gnomAD-4.0.0 1.59372E-06
9477 81 K/E 165 None 0.8441 None gnomAD-4.0.0 1.20032E-05
9477 81 K/R 165 None 0.8441 None gnomAD-4.0.0 3.18772E-06
9478 82 D/A 166 rs1553887887 0.2243 None gnomAD-4.0.0 3.60097E-06
9478 82 D/N 166 rs1201727409 0.2243 None gnomAD-3.1.2 6.57E-06
9478 82 D/N 166 rs1201727409 0.2243 None gnomAD-4.0.0 6.57142E-06
9478 82 D/Y 166 None 0.2243 None gnomAD-4.0.0 2.40064E-06
9479 83 S/C 168 None 0.2957 None gnomAD-4.0.0 1.59464E-06
9483 87 Q/R 173 None 0.2271 None gnomAD-4.0.0 2.40064E-06
9484 88 L/P 174 rs1378540444 0.0896 None gnomAD-3.1.2 6.57E-06
9484 88 L/P 174 rs1378540444 0.0896 None gnomAD-4.0.0 2.57691E-06
9486 90 I/T 177 rs746742751 0.2262 None gnomAD-2.1.1 4.04E-06
9486 90 I/T 177 rs746742751 0.2262 None gnomAD-3.1.2 6.57E-06
9486 90 I/T 177 rs746742751 0.2262 None gnomAD-4.0.0 2.59688E-06
9486 90 I/V 177 rs1327402224 0.2262 None gnomAD-2.1.1 7.16E-06
9486 90 I/V 177 rs1327402224 0.2262 None gnomAD-3.1.2 2.63E-05
9486 90 I/V 177 rs1327402224 0.2262 None gnomAD-4.0.0 2.62771E-05