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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
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

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
9397 1 P/L 1 rs1359908699 0.1591 None gnomAD-2.1.1 3.19E-05
9397 1 P/L 1 rs1359908699 0.1591 None gnomAD-3.1.2 6.57E-06
9397 1 P/L 1 rs1359908699 0.1591 None gnomAD-4.0.0 6.5735E-06
9397 1 P/S 1 rs1446166655 0.1591 None gnomAD-2.1.1 3.18E-05
9397 1 P/S 1 rs1446166655 0.1591 None gnomAD-4.0.0 1.593E-06
9398 2 F/C 2 None 0.5365 None gnomAD-4.0.0 6.84471E-07
9398 2 F/I 2 rs1299415103 0.5365 None gnomAD-3.1.2 6.57E-06
9398 2 F/I 2 rs1299415103 0.5365 None gnomAD-4.0.0 2.56384E-06
9398 2 F/Y 2 None 0.5365 None gnomAD-4.0.0 6.84471E-07
9399 3 F/I 3 None 0.1228 None gnomAD-4.0.0 1.20032E-06
9400 4 D/G 4 rs1254441947 0.4700 None gnomAD-2.1.1 4.03E-06
9400 4 D/G 4 rs1254441947 0.4700 None gnomAD-3.1.2 1.31E-05
9400 4 D/G 4 rs1254441947 0.4700 None gnomAD-4.0.0 1.23978E-05
9400 4 D/H 4 None 0.4700 None gnomAD-4.0.0 6.84467E-07
9401 5 I/F 5 None 0.4180 None gnomAD-4.0.0 1.59235E-06
9402 6 R/C 7 rs369553799 0.7654 None gnomAD-2.1.1 3.22E-05
9402 6 R/C 7 rs369553799 0.7654 None gnomAD-3.1.2 2.63E-05
9402 6 R/C 7 rs369553799 0.7654 None gnomAD-4.0.0 2.60337E-05
9402 6 R/G 7 None 0.7654 None gnomAD-4.0.0 6.84397E-07
9402 6 R/H 7 rs773986121 0.7654 None gnomAD-2.1.1 6.08E-05
9402 6 R/H 7 rs773986121 0.7654 None gnomAD-3.1.2 5.26E-05
9402 6 R/H 7 rs773986121 0.7654 None gnomAD-4.0.0 3.40917E-05
9402 6 R/L 7 None 0.7654 None gnomAD-4.0.0 3.42187E-06
9403 7 L/V 8 rs752742472 0.1225 None gnomAD-2.1.1 8.06E-06
9403 7 L/V 8 rs752742472 0.1225 None gnomAD-4.0.0 2.73738E-06
9404 8 A/P 9 None 0.4776 None gnomAD-4.0.0 1.36858E-06
9404 8 A/V 9 rs1238309373 0.4776 None gnomAD-4.0.0 2.05287E-06
9406 10 V/M 13 rs1280284347 0.3232 None gnomAD-2.1.1 4.03E-06
9406 10 V/M 13 rs1280284347 0.3232 None gnomAD-4.0.0 1.59116E-06
9408 12 A/T 16 rs767417518 0.2073 None gnomAD-2.1.1 4.03E-06
9408 12 A/T 16 rs767417518 0.2073 None gnomAD-3.1.2 6.57E-06
9408 12 A/T 16 rs767417518 0.2073 None gnomAD-4.0.0 3.04472E-06
9409 13 V/A 18 None 0.5798 None gnomAD-4.0.0 1.20032E-06
9409 13 V/M 18 rs1239606732 0.5798 None gnomAD-2.1.1 7.15E-06
9409 13 V/M 18 rs1239606732 0.5798 None gnomAD-3.1.2 1.97E-05
9409 13 V/M 18 rs1239606732 0.5798 None gnomAD-4.0.0 8.05552E-06
9411 15 G/E 24 rs563866126 0.3086 None gnomAD-2.1.1 2.14E-05
9411 15 G/E 24 rs563866126 0.3086 None gnomAD-3.1.2 5.91E-05
9411 15 G/E 24 rs563866126 0.3086 None 1000 genomes 1.99681E-04
9411 15 G/E 24 rs563866126 0.3086 None gnomAD-4.0.0 1.05335E-05
9412 16 E/G 25 rs766534072 0.4170 None gnomAD-2.1.1 4.02E-06
9412 16 E/G 25 rs766534072 0.4170 None gnomAD-4.0.0 1.36834E-06
9414 18 A/V 28 None 0.3158 None gnomAD-4.0.0 1.20032E-06
9415 19 D/E 29 rs2076551495 0.4896 None gnomAD-3.1.2 6.57E-06
9415 19 D/E 29 rs2076551495 0.4896 None gnomAD-4.0.0 1.59109E-06
9416 20 F/L 30 None 0.1222 None gnomAD-4.0.0 6.84173E-07
9416 20 F/S 30 None 0.1222 None gnomAD-4.0.0 6.84174E-07
9416 20 F/Y 30 rs879120584 0.1222 None gnomAD-2.1.1 7.14E-06
9416 20 F/Y 30 rs879120584 0.1222 None gnomAD-3.1.2 1.97E-05
9416 20 F/Y 30 rs879120584 0.1222 None gnomAD-4.0.0 6.19678E-06
9417 21 E/D 31 rs773169301 0.4355 None gnomAD-2.1.1 8.04E-06
9417 21 E/D 31 rs773169301 0.4355 None gnomAD-3.1.2 1.31E-05
9417 21 E/D 31 rs773169301 0.4355 None gnomAD-4.0.0 3.09838E-06
9418 22 C/R 33 rs770276972 0.1171 None gnomAD-2.1.1 4.02E-06
9418 22 C/R 33 rs770276972 0.1171 None gnomAD-4.0.0 7.95532E-06
9419 23 H/Q 34 rs762212243 0.3309 None gnomAD-2.1.1 4.02E-06
9419 23 H/Q 34 rs762212243 0.3309 None gnomAD-4.0.0 6.84175E-07
9420 24 V/G 35 None 0.1146 None gnomAD-4.0.0 1.59106E-06
9420 24 V/I 35 rs777186750 0.1146 None gnomAD-2.1.1 2.5E-05
9420 24 V/I 35 rs777186750 0.1146 None gnomAD-3.1.2 1.31E-05
9420 24 V/I 35 rs777186750 0.1146 None gnomAD-4.0.0 3.71812E-06
9421 25 T/M 38 rs375209383 0.3599 None gnomAD-2.1.1 8.56E-05
9421 25 T/M 38 rs375209383 0.3599 None gnomAD-3.1.2 4.6E-05
9421 25 T/M 38 rs375209383 0.3599 None gnomAD-4.0.0 7.18783E-05
9421 25 T/S 38 None 0.3599 None gnomAD-4.0.0 1.20032E-06
9423 27 T/I 41 None 0.5969 None gnomAD-4.0.0 1.20032E-06
9424 28 Q/K 42 rs748778927 0.8913 None gnomAD-2.1.1 7.13E-06
9424 28 Q/K 42 rs748778927 0.8913 None gnomAD-3.1.2 6.57E-06
9424 28 Q/K 42 rs748778927 0.8913 None gnomAD-4.0.0 4.33777E-06
9425 29 P/L 43 rs755720364 0.7114 None gnomAD-2.1.1 8.03E-06
9425 29 P/L 43 rs755720364 0.7114 None gnomAD-3.1.2 6.58E-06
9425 29 P/L 43 rs755720364 0.7114 None gnomAD-4.0.0 4.33788E-06
9425 29 P/R 43 rs755720364 0.7114 None gnomAD-2.1.1 8.03E-06
9425 29 P/R 43 rs755720364 0.7114 None gnomAD-4.0.0 1.36832E-06
9425 29 P/S 43 None 0.7114 None gnomAD-4.0.0 1.59102E-06
9426 30 I/T 44 None 0.1888 None gnomAD-4.0.0 3.4208E-06
9427 31 K/N 45 rs1207669528 0.6333 None gnomAD-3.1.2 6.57E-06
9427 31 K/N 45 rs1207669528 0.6333 None gnomAD-4.0.0 6.84161E-07
9428 32 V/F 46 None 0.4374 None gnomAD-4.0.0 5.47328E-06
9428 32 V/I 46 rs1284963573 0.4374 None gnomAD-2.1.1 8.03E-06
9428 32 V/I 46 rs1284963573 0.4374 None gnomAD-4.0.0 4.78912E-06
9428 32 V/L 46 rs1284963573 0.4374 None gnomAD-2.1.1 3.18E-05
9428 32 V/L 46 rs1284963573 0.4374 None gnomAD-3.1.2 1.31E-05
9428 32 V/L 46 rs1284963573 0.4374 None gnomAD-4.0.0 1.31449E-05
9432 36 K/T 50 None 0.1261 None gnomAD-4.0.0 1.20032E-06
9433 37 D/E 51 rs372608982 0.3820 None gnomAD-2.1.1 4.82E-05
9433 37 D/E 51 rs372608982 0.3820 None gnomAD-3.1.2 3.94E-05
9433 37 D/E 51 rs372608982 0.3820 None gnomAD-4.0.0 2.29276E-05
9433 37 D/G 51 rs1441669143 0.3820 None gnomAD-3.1.2 6.57E-06
9433 37 D/G 51 rs1441669143 0.3820 None gnomAD-4.0.0 6.57091E-06
9433 37 D/H 51 rs781329594 0.3820 None gnomAD-2.1.1 4.02E-06
9433 37 D/H 51 rs781329594 0.3820 None gnomAD-4.0.0 1.59099E-06
9434 38 S/I 52 rs751432055 0.7109 None gnomAD-2.1.1 4.02E-06
9434 38 S/I 52 rs751432055 0.7109 None gnomAD-4.0.0 1.36832E-06
9434 38 S/R 52 None 0.7109 None gnomAD-4.0.0 1.59099E-06
9435 39 R/G 55 rs1355846496 0.4520 None gnomAD-2.1.1 4.02E-06
9435 39 R/G 55 rs1355846496 0.4520 None gnomAD-4.0.0 1.59099E-06
9436 40 E/D 56 rs906433178 0.4884 None gnomAD-3.1.2 1.31E-05
9436 40 E/D 56 rs906433178 0.4884 None gnomAD-4.0.0 1.85895E-06
9436 40 E/Q 56 None 0.4884 None gnomAD-4.0.0 1.20032E-06
9437 41 I/T 58 rs1277389231 0.1548 None gnomAD-2.1.1 4.01E-06
9437 41 I/T 58 rs1277389231 0.1548 None gnomAD-4.0.0 1.59098E-06
9438 42 R/Q 59 rs72648998 0.5146 None gnomAD-2.1.1 4.68935E-02
9438 42 R/Q 59 rs72648998 0.5146 None gnomAD-3.1.2 4.08323E-02
9438 42 R/Q 59 rs72648998 0.5146 None 1000 genomes 2.73562E-02
9438 42 R/Q 59 rs72648998 0.5146 None gnomAD-4.0.0 5.42117E-02
9439 43 S/N 70 None 0.9068 None gnomAD-4.0.0 4.77295E-06
9440 44 G/R 73 rs940069606 0.8958 None gnomAD-4.0.0 1.20032E-06
9441 45 G/A 111 None 0.5042 None gnomAD-4.0.0 1.20033E-06
9441 45 G/R 111 rs397517529 0.5042 None gnomAD-2.1.1 1.61E-05
9441 45 G/R 111 rs397517529 0.5042 None gnomAD-3.1.2 6.58E-06
9441 45 G/R 111 rs397517529 0.5042 None gnomAD-4.0.0 8.05581E-06
9444 48 Q/R 122 None 0.4471 None gnomAD-4.0.0 1.20032E-06
9446 50 S/N 125 rs762605364 0.4671 None gnomAD-4.0.0 2.05249E-06
9446 50 S/T 125 None 0.4671 None gnomAD-4.0.0 6.84163E-07
9447 51 Y/C 127 None 0.8486 None gnomAD-4.0.0 1.591E-06
9447 51 Y/H 127 rs1051050691 0.8486 None gnomAD-2.1.1 4.02E-06
9447 51 Y/H 127 rs1051050691 0.8486 None gnomAD-4.0.0 4.10499E-06
9450 54 N/K 134 None 0.4919 None gnomAD-4.0.0 1.20032E-06
9450 54 N/S 134 None 0.4919 None gnomAD-4.0.0 1.20032E-06
9450 54 N/T 134 rs2076533329 0.4919 None gnomAD-3.1.2 6.57E-06
9450 54 N/T 134 rs2076533329 0.4919 None gnomAD-4.0.0 6.57186E-06
9451 55 S/R 135 rs777096848 0.2599 None gnomAD-2.1.1 4.02E-06
9451 55 S/R 135 rs777096848 0.2599 None gnomAD-4.0.0 6.84188E-07
9452 56 A/P 136 rs527663092 0.1482 None gnomAD-2.1.1 1.61E-05
9452 56 A/P 136 rs527663092 0.1482 None gnomAD-4.0.0 8.89436E-06
9452 56 A/T 136 rs527663092 0.1482 None gnomAD-2.1.1 6.02E-05
9452 56 A/T 136 rs527663092 0.1482 None gnomAD-3.1.2 7.23E-05
9452 56 A/T 136 rs527663092 0.1482 None 1000 genomes 1.99681E-04
9452 56 A/T 136 rs527663092 0.1482 None gnomAD-4.0.0 3.65595E-05
9453 57 H/Q 137 None 0.3441 None gnomAD-4.0.0 6.84184E-07
9456 60 V/A 140 rs1185144865 0.1106 None gnomAD-2.1.1 4.02E-06
9456 60 V/A 140 rs1185144865 0.1106 None gnomAD-4.0.0 1.59117E-06
9456 60 V/F 140 rs772549192 0.1106 None gnomAD-2.1.1 4.02E-06
9456 60 V/F 140 rs772549192 0.1106 None gnomAD-4.0.0 4.80129E-06
9457 61 L/V 141 None 0.3671 None gnomAD-4.0.0 2.40064E-06
9459 63 V/A 144 rs541910545 0.1022 None gnomAD-2.1.1 8.03E-06
9459 63 V/A 144 rs541910545 0.1022 None gnomAD-3.1.2 1.31E-05
9459 63 V/A 144 rs541910545 0.1022 None 1000 genomes 1.99681E-04
9459 63 V/A 144 rs541910545 0.1022 None gnomAD-4.0.0 2.47867E-06
9460 64 D/H 145 None 0.3758 None gnomAD-4.0.0 1.59137E-06
9461 65 K/E 146 None 0.6678 None gnomAD-4.0.0 1.20032E-06
9462 66 G/E 148 rs866946485 0.3385 None gnomAD-2.1.1 4.02E-06
9462 66 G/V 148 None 0.3385 None gnomAD-3.1.2 6.57E-06
9462 66 G/V 148 None 0.3385 None gnomAD-4.0.0 6.57272E-06
9463 67 D/N 149 rs769166539 0.1564 None gnomAD-2.1.1 4.02E-06
9463 67 D/N 149 rs769166539 0.1564 None gnomAD-3.1.2 6.57E-06
9463 67 D/N 149 rs769166539 0.1564 None gnomAD-4.0.0 6.56996E-06
9463 67 D/Y 149 rs769166539 0.1564 None gnomAD-2.1.1 4.02E-06
9463 67 D/Y 149 rs769166539 0.1564 None gnomAD-4.0.0 1.59157E-06
9465 69 G/E 152 rs553570568 0.1569 None gnomAD-2.1.1 4.02E-06
9465 69 G/E 152 rs553570568 0.1569 None gnomAD-4.0.0 1.64237E-05
9465 69 G/R 152 rs747684566 0.1569 None gnomAD-2.1.1 4.02E-06
9465 69 G/R 152 rs747684566 0.1569 None gnomAD-4.0.0 6.84308E-07
9466 70 Q/K 153 None 0.3494 None gnomAD-4.0.0 1.36865E-06
9466 70 Q/P 153 rs1215467586 0.3494 None gnomAD-2.1.1 4.02E-06
9466 70 Q/P 153 rs1215467586 0.3494 None gnomAD-4.0.0 1.36865E-06
9467 71 Y/H 154 rs2076528608 0.0931 None gnomAD-4.0.0 1.36866E-06
9468 72 T/I 155 None 0.1087 None gnomAD-4.0.0 1.59206E-06
9468 72 T/S 155 rs1241585388 0.1087 None gnomAD-3.1.2 1.31E-05
9468 72 T/S 155 rs1241585388 0.1087 None gnomAD-4.0.0 1.31413E-05
9470 74 Y/C 157 rs781236320 0.4060 None gnomAD-2.1.1 4.02E-06
9471 75 A/G 158 None 0.0912 None gnomAD-4.0.0 6.8445E-07
9471 75 A/S 158 rs2076526997 0.0912 None gnomAD-4.0.0 6.84433E-07
9471 75 A/T 158 None 0.0912 None gnomAD-4.0.0 6.84433E-07
9472 76 V/G 159 rs1257120493 0.3007 None gnomAD-2.1.1 1.2E-05
9472 76 V/G 159 rs1257120493 0.3007 None gnomAD-4.0.0 3.4225E-06
9472 76 V/L 159 None 0.3007 None gnomAD-4.0.0 1.20032E-05
9473 77 N/H 161 None 0.1398 None gnomAD-4.0.0 3.18585E-06
9473 77 N/S 161 rs2076526398 0.1398 None gnomAD-4.0.0 1.59291E-06
9475 79 V/E 163 None 0.7168 None gnomAD-4.0.0 1.5934E-06
9475 79 V/G 163 rs1363580617 0.7168 None gnomAD-2.1.1 1.07E-05
9475 79 V/G 163 rs1363580617 0.7168 None gnomAD-3.1.2 6.57E-06
9475 79 V/G 163 rs1363580617 0.7168 None gnomAD-4.0.0 3.84761E-06
9475 79 V/L 163 rs754971247 0.7168 None gnomAD-2.1.1 8.03E-06
9475 79 V/L 163 rs754971247 0.7168 None gnomAD-4.0.0 3.18667E-06
9476 80 G/V 164 None 0.1947 None gnomAD-4.0.0 1.59372E-06
9477 81 K/E 165 None 0.7319 None gnomAD-4.0.0 1.20032E-05
9477 81 K/R 165 None 0.7319 None gnomAD-4.0.0 3.18772E-06
9478 82 D/A 166 rs1553887887 0.2111 None gnomAD-4.0.0 3.60097E-06
9478 82 D/N 166 rs1201727409 0.2111 None gnomAD-3.1.2 6.57E-06
9478 82 D/N 166 rs1201727409 0.2111 None gnomAD-4.0.0 6.57142E-06
9478 82 D/Y 166 None 0.2111 None gnomAD-4.0.0 2.40064E-06
9479 83 S/C 168 None 0.2241 None gnomAD-4.0.0 1.59464E-06
9483 87 Q/R 173 None 0.2889 None gnomAD-4.0.0 2.40064E-06
9484 88 L/P 174 rs1378540444 0.1129 None gnomAD-3.1.2 6.57E-06
9484 88 L/P 174 rs1378540444 0.1129 None gnomAD-4.0.0 2.57691E-06
9486 90 I/T 177 rs746742751 0.4405 None gnomAD-2.1.1 4.04E-06
9486 90 I/T 177 rs746742751 0.4405 None gnomAD-3.1.2 6.57E-06
9486 90 I/T 177 rs746742751 0.4405 None gnomAD-4.0.0 2.59688E-06
9486 90 I/V 177 rs1327402224 0.4405 None gnomAD-2.1.1 7.16E-06
9486 90 I/V 177 rs1327402224 0.4405 None gnomAD-3.1.2 2.63E-05
9486 90 I/V 177 rs1327402224 0.4405 None gnomAD-4.0.0 2.62771E-05