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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 K
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 0.2072 None gnomAD-2.1.1 3.19E-05
9397 1 P/L 1 rs1359908699 0.2072 None gnomAD-3.1.2 6.57E-06
9397 1 P/L 1 rs1359908699 0.2072 None gnomAD-4.0.0 6.5735E-06
9397 1 P/S 1 rs1446166655 0.2072 None gnomAD-2.1.1 3.18E-05
9397 1 P/S 1 rs1446166655 0.2072 None gnomAD-4.0.0 1.593E-06
9398 2 F/C 2 None 0.3768 None gnomAD-4.0.0 6.84471E-07
9398 2 F/I 2 rs1299415103 0.3768 None gnomAD-3.1.2 6.57E-06
9398 2 F/I 2 rs1299415103 0.3768 None gnomAD-4.0.0 2.56384E-06
9398 2 F/Y 2 None 0.3768 None gnomAD-4.0.0 6.84471E-07
9399 3 F/I 3 None 0.1264 None gnomAD-4.0.0 1.20032E-06
9400 4 D/G 4 rs1254441947 0.3222 None gnomAD-2.1.1 4.03E-06
9400 4 D/G 4 rs1254441947 0.3222 None gnomAD-3.1.2 1.31E-05
9400 4 D/G 4 rs1254441947 0.3222 None gnomAD-4.0.0 1.23978E-05
9400 4 D/H 4 None 0.3222 None gnomAD-4.0.0 6.84467E-07
9401 5 I/F 5 None 0.4916 None gnomAD-4.0.0 1.59235E-06
9402 6 R/C 7 rs369553799 0.5934 None gnomAD-2.1.1 3.22E-05
9402 6 R/C 7 rs369553799 0.5934 None gnomAD-3.1.2 2.63E-05
9402 6 R/C 7 rs369553799 0.5934 None gnomAD-4.0.0 2.60337E-05
9402 6 R/G 7 None 0.5934 None gnomAD-4.0.0 6.84397E-07
9402 6 R/H 7 rs773986121 0.5934 None gnomAD-2.1.1 6.08E-05
9402 6 R/H 7 rs773986121 0.5934 None gnomAD-3.1.2 5.26E-05
9402 6 R/H 7 rs773986121 0.5934 None gnomAD-4.0.0 3.40917E-05
9402 6 R/L 7 None 0.5934 None gnomAD-4.0.0 3.42187E-06
9403 7 L/V 8 rs752742472 0.1918 None gnomAD-2.1.1 8.06E-06
9403 7 L/V 8 rs752742472 0.1918 None gnomAD-4.0.0 2.73738E-06
9404 8 A/P 9 None 0.5337 None gnomAD-4.0.0 1.36858E-06
9404 8 A/V 9 rs1238309373 0.5337 None gnomAD-4.0.0 2.05287E-06
9406 10 V/M 13 rs1280284347 0.2055 None gnomAD-2.1.1 4.03E-06
9406 10 V/M 13 rs1280284347 0.2055 None gnomAD-4.0.0 1.59116E-06
9408 12 A/T 16 rs767417518 0.1806 None gnomAD-2.1.1 4.03E-06
9408 12 A/T 16 rs767417518 0.1806 None gnomAD-3.1.2 6.57E-06
9408 12 A/T 16 rs767417518 0.1806 None gnomAD-4.0.0 3.04472E-06
9409 13 V/A 18 None 0.4215 None gnomAD-4.0.0 1.20032E-06
9409 13 V/M 18 rs1239606732 0.4215 None gnomAD-2.1.1 7.15E-06
9409 13 V/M 18 rs1239606732 0.4215 None gnomAD-3.1.2 1.97E-05
9409 13 V/M 18 rs1239606732 0.4215 None gnomAD-4.0.0 8.05552E-06
9411 15 G/E 24 rs563866126 0.3321 None gnomAD-2.1.1 2.14E-05
9411 15 G/E 24 rs563866126 0.3321 None gnomAD-3.1.2 5.91E-05
9411 15 G/E 24 rs563866126 0.3321 None 1000 genomes 1.99681E-04
9411 15 G/E 24 rs563866126 0.3321 None gnomAD-4.0.0 1.05335E-05
9412 16 E/G 25 rs766534072 0.4341 None gnomAD-2.1.1 4.02E-06
9412 16 E/G 25 rs766534072 0.4341 None gnomAD-4.0.0 1.36834E-06
9414 18 A/V 28 None 0.1697 None gnomAD-4.0.0 1.20032E-06
9415 19 D/E 29 rs2076551495 0.4979 None gnomAD-3.1.2 6.57E-06
9415 19 D/E 29 rs2076551495 0.4979 None gnomAD-4.0.0 1.59109E-06
9416 20 F/L 30 None 0.1401 None gnomAD-4.0.0 6.84173E-07
9416 20 F/S 30 None 0.1401 None gnomAD-4.0.0 6.84174E-07
9416 20 F/Y 30 rs879120584 0.1401 None gnomAD-2.1.1 7.14E-06
9416 20 F/Y 30 rs879120584 0.1401 None gnomAD-3.1.2 1.97E-05
9416 20 F/Y 30 rs879120584 0.1401 None gnomAD-4.0.0 6.19678E-06
9417 21 E/D 31 rs773169301 0.4271 None gnomAD-2.1.1 8.04E-06
9417 21 E/D 31 rs773169301 0.4271 None gnomAD-3.1.2 1.31E-05
9417 21 E/D 31 rs773169301 0.4271 None gnomAD-4.0.0 3.09838E-06
9418 22 C/R 33 rs770276972 0.0968 None gnomAD-2.1.1 4.02E-06
9418 22 C/R 33 rs770276972 0.0968 None gnomAD-4.0.0 7.95532E-06
9419 23 H/Q 34 rs762212243 0.2578 None gnomAD-2.1.1 4.02E-06
9419 23 H/Q 34 rs762212243 0.2578 None gnomAD-4.0.0 6.84175E-07
9420 24 V/G 35 None 0.1140 None gnomAD-4.0.0 1.59106E-06
9420 24 V/I 35 rs777186750 0.1140 None gnomAD-2.1.1 2.5E-05
9420 24 V/I 35 rs777186750 0.1140 None gnomAD-3.1.2 1.31E-05
9420 24 V/I 35 rs777186750 0.1140 None gnomAD-4.0.0 3.71812E-06
9421 25 T/M 38 rs375209383 0.3541 None gnomAD-2.1.1 8.56E-05
9421 25 T/M 38 rs375209383 0.3541 None gnomAD-3.1.2 4.6E-05
9421 25 T/M 38 rs375209383 0.3541 None gnomAD-4.0.0 7.18783E-05
9421 25 T/S 38 None 0.3541 None gnomAD-4.0.0 1.20032E-06
9423 27 T/I 41 None 0.7613 None gnomAD-4.0.0 1.20032E-06
9424 28 Q/K 42 rs748778927 0.4449 None gnomAD-2.1.1 7.13E-06
9424 28 Q/K 42 rs748778927 0.4449 None gnomAD-3.1.2 6.57E-06
9424 28 Q/K 42 rs748778927 0.4449 None gnomAD-4.0.0 4.33777E-06
9425 29 P/L 43 rs755720364 0.6702 None gnomAD-2.1.1 8.03E-06
9425 29 P/L 43 rs755720364 0.6702 None gnomAD-3.1.2 6.58E-06
9425 29 P/L 43 rs755720364 0.6702 None gnomAD-4.0.0 4.33788E-06
9425 29 P/R 43 rs755720364 0.6702 None gnomAD-2.1.1 8.03E-06
9425 29 P/R 43 rs755720364 0.6702 None gnomAD-4.0.0 1.36832E-06
9425 29 P/S 43 None 0.6702 None gnomAD-4.0.0 1.59102E-06
9426 30 I/T 44 None 0.1512 None gnomAD-4.0.0 3.4208E-06
9427 31 K/N 45 rs1207669528 0.7339 None gnomAD-3.1.2 6.57E-06
9427 31 K/N 45 rs1207669528 0.7339 None gnomAD-4.0.0 6.84161E-07
9428 32 V/F 46 None 0.2485 None gnomAD-4.0.0 5.47328E-06
9428 32 V/I 46 rs1284963573 0.2485 None gnomAD-2.1.1 8.03E-06
9428 32 V/I 46 rs1284963573 0.2485 None gnomAD-4.0.0 4.78912E-06
9428 32 V/L 46 rs1284963573 0.2485 None gnomAD-2.1.1 3.18E-05
9428 32 V/L 46 rs1284963573 0.2485 None gnomAD-3.1.2 1.31E-05
9428 32 V/L 46 rs1284963573 0.2485 None gnomAD-4.0.0 1.31449E-05
9432 36 K/T 50 None 0.1076 None gnomAD-4.0.0 1.20032E-06
9433 37 D/E 51 rs372608982 0.4359 None gnomAD-2.1.1 4.82E-05
9433 37 D/E 51 rs372608982 0.4359 None gnomAD-3.1.2 3.94E-05
9433 37 D/E 51 rs372608982 0.4359 None gnomAD-4.0.0 2.29276E-05
9433 37 D/G 51 rs1441669143 0.4359 None gnomAD-3.1.2 6.57E-06
9433 37 D/G 51 rs1441669143 0.4359 None gnomAD-4.0.0 6.57091E-06
9433 37 D/H 51 rs781329594 0.4359 None gnomAD-2.1.1 4.02E-06
9433 37 D/H 51 rs781329594 0.4359 None gnomAD-4.0.0 1.59099E-06
9434 38 S/I 52 rs751432055 0.8485 None gnomAD-2.1.1 4.02E-06
9434 38 S/I 52 rs751432055 0.8485 None gnomAD-4.0.0 1.36832E-06
9434 38 S/R 52 None 0.8485 None gnomAD-4.0.0 1.59099E-06
9435 39 R/G 55 rs1355846496 0.7837 None gnomAD-2.1.1 4.02E-06
9435 39 R/G 55 rs1355846496 0.7837 None gnomAD-4.0.0 1.59099E-06
9436 40 E/D 56 rs906433178 0.5494 None gnomAD-3.1.2 1.31E-05
9436 40 E/D 56 rs906433178 0.5494 None gnomAD-4.0.0 1.85895E-06
9436 40 E/Q 56 None 0.5494 None gnomAD-4.0.0 1.20032E-06
9437 41 I/T 58 rs1277389231 0.1289 None gnomAD-2.1.1 4.01E-06
9437 41 I/T 58 rs1277389231 0.1289 None gnomAD-4.0.0 1.59098E-06
9438 42 R/Q 59 rs72648998 0.6769 None gnomAD-2.1.1 4.68935E-02
9438 42 R/Q 59 rs72648998 0.6769 None gnomAD-3.1.2 4.08323E-02
9438 42 R/Q 59 rs72648998 0.6769 None 1000 genomes 2.73562E-02
9438 42 R/Q 59 rs72648998 0.6769 None gnomAD-4.0.0 5.42117E-02
9439 43 S/N 70 None 0.5065 None gnomAD-4.0.0 4.77295E-06
9440 44 G/R 73 rs940069606 0.4221 None gnomAD-4.0.0 1.20032E-06
9441 45 G/A 111 None 0.7185 None gnomAD-4.0.0 1.20033E-06
9441 45 G/R 111 rs397517529 0.7185 None gnomAD-2.1.1 1.61E-05
9441 45 G/R 111 rs397517529 0.7185 None gnomAD-3.1.2 6.58E-06
9441 45 G/R 111 rs397517529 0.7185 None gnomAD-4.0.0 8.05581E-06
9444 48 Q/R 122 None 0.6040 None gnomAD-4.0.0 1.20032E-06
9446 50 S/N 125 rs762605364 0.4615 None gnomAD-4.0.0 2.05249E-06
9446 50 S/T 125 None 0.4615 None gnomAD-4.0.0 6.84163E-07
9447 51 Y/C 127 None 0.3540 None gnomAD-4.0.0 1.591E-06
9447 51 Y/H 127 rs1051050691 0.3540 None gnomAD-2.1.1 4.02E-06
9447 51 Y/H 127 rs1051050691 0.3540 None gnomAD-4.0.0 4.10499E-06
9450 54 N/K 134 None 0.3131 None gnomAD-4.0.0 1.20032E-06
9450 54 N/S 134 None 0.3131 None gnomAD-4.0.0 1.20032E-06
9450 54 N/T 134 rs2076533329 0.3131 None gnomAD-3.1.2 6.57E-06
9450 54 N/T 134 rs2076533329 0.3131 None gnomAD-4.0.0 6.57186E-06
9451 55 S/R 135 rs777096848 0.1430 None gnomAD-2.1.1 4.02E-06
9451 55 S/R 135 rs777096848 0.1430 None gnomAD-4.0.0 6.84188E-07
9452 56 A/P 136 rs527663092 0.0969 None gnomAD-2.1.1 1.61E-05
9452 56 A/P 136 rs527663092 0.0969 None gnomAD-4.0.0 8.89436E-06
9452 56 A/T 136 rs527663092 0.0969 None gnomAD-2.1.1 6.02E-05
9452 56 A/T 136 rs527663092 0.0969 None gnomAD-3.1.2 7.23E-05
9452 56 A/T 136 rs527663092 0.0969 None 1000 genomes 1.99681E-04
9452 56 A/T 136 rs527663092 0.0969 None gnomAD-4.0.0 3.65595E-05
9453 57 H/Q 137 None 0.4439 None gnomAD-4.0.0 6.84184E-07
9456 60 V/A 140 rs1185144865 0.1123 None gnomAD-2.1.1 4.02E-06
9456 60 V/A 140 rs1185144865 0.1123 None gnomAD-4.0.0 1.59117E-06
9456 60 V/F 140 rs772549192 0.1123 None gnomAD-2.1.1 4.02E-06
9456 60 V/F 140 rs772549192 0.1123 None gnomAD-4.0.0 4.80129E-06
9457 61 L/V 141 None 0.4772 None gnomAD-4.0.0 2.40064E-06
9459 63 V/A 144 rs541910545 0.1276 None gnomAD-2.1.1 8.03E-06
9459 63 V/A 144 rs541910545 0.1276 None gnomAD-3.1.2 1.31E-05
9459 63 V/A 144 rs541910545 0.1276 None 1000 genomes 1.99681E-04
9459 63 V/A 144 rs541910545 0.1276 None gnomAD-4.0.0 2.47867E-06
9460 64 D/H 145 None 0.3777 None gnomAD-4.0.0 1.59137E-06
9461 65 K/E 146 None 0.8739 None gnomAD-4.0.0 1.20032E-06
9462 66 G/E 148 rs866946485 0.3618 None gnomAD-2.1.1 4.02E-06
9462 66 G/V 148 None 0.3618 None gnomAD-3.1.2 6.57E-06
9462 66 G/V 148 None 0.3618 None gnomAD-4.0.0 6.57272E-06
9463 67 D/N 149 rs769166539 0.1329 None gnomAD-2.1.1 4.02E-06
9463 67 D/N 149 rs769166539 0.1329 None gnomAD-3.1.2 6.57E-06
9463 67 D/N 149 rs769166539 0.1329 None gnomAD-4.0.0 6.56996E-06
9463 67 D/Y 149 rs769166539 0.1329 None gnomAD-2.1.1 4.02E-06
9463 67 D/Y 149 rs769166539 0.1329 None gnomAD-4.0.0 1.59157E-06
9465 69 G/E 152 rs553570568 0.1496 None gnomAD-2.1.1 4.02E-06
9465 69 G/E 152 rs553570568 0.1496 None gnomAD-4.0.0 1.64237E-05
9465 69 G/R 152 rs747684566 0.1496 None gnomAD-2.1.1 4.02E-06
9465 69 G/R 152 rs747684566 0.1496 None gnomAD-4.0.0 6.84308E-07
9466 70 Q/K 153 None 0.6090 None gnomAD-4.0.0 1.36865E-06
9466 70 Q/P 153 rs1215467586 0.6090 None gnomAD-2.1.1 4.02E-06
9466 70 Q/P 153 rs1215467586 0.6090 None gnomAD-4.0.0 1.36865E-06
9467 71 Y/H 154 rs2076528608 0.1093 None gnomAD-4.0.0 1.36866E-06
9468 72 T/I 155 None 0.1456 None gnomAD-4.0.0 1.59206E-06
9468 72 T/S 155 rs1241585388 0.1456 None gnomAD-3.1.2 1.31E-05
9468 72 T/S 155 rs1241585388 0.1456 None gnomAD-4.0.0 1.31413E-05
9470 74 Y/C 157 rs781236320 0.4401 None gnomAD-2.1.1 4.02E-06
9471 75 A/G 158 None 0.1263 None gnomAD-4.0.0 6.8445E-07
9471 75 A/S 158 rs2076526997 0.1263 None gnomAD-4.0.0 6.84433E-07
9471 75 A/T 158 None 0.1263 None gnomAD-4.0.0 6.84433E-07
9472 76 V/G 159 rs1257120493 0.3634 None gnomAD-2.1.1 1.2E-05
9472 76 V/G 159 rs1257120493 0.3634 None gnomAD-4.0.0 3.4225E-06
9472 76 V/L 159 None 0.3634 None gnomAD-4.0.0 1.20032E-05
9473 77 N/H 161 None 0.1664 None gnomAD-4.0.0 3.18585E-06
9473 77 N/S 161 rs2076526398 0.1664 None gnomAD-4.0.0 1.59291E-06
9475 79 V/E 163 None 0.8867 None gnomAD-4.0.0 1.5934E-06
9475 79 V/G 163 rs1363580617 0.8867 None gnomAD-2.1.1 1.07E-05
9475 79 V/G 163 rs1363580617 0.8867 None gnomAD-3.1.2 6.57E-06
9475 79 V/G 163 rs1363580617 0.8867 None gnomAD-4.0.0 3.84761E-06
9475 79 V/L 163 rs754971247 0.8867 None gnomAD-2.1.1 8.03E-06
9475 79 V/L 163 rs754971247 0.8867 None gnomAD-4.0.0 3.18667E-06
9476 80 G/V 164 None 0.2429 None gnomAD-4.0.0 1.59372E-06
9477 81 K/E 165 None 0.8264 None gnomAD-4.0.0 1.20032E-05
9477 81 K/R 165 None 0.8264 None gnomAD-4.0.0 3.18772E-06
9478 82 D/A 166 rs1553887887 0.2622 None gnomAD-4.0.0 3.60097E-06
9478 82 D/N 166 rs1201727409 0.2622 None gnomAD-3.1.2 6.57E-06
9478 82 D/N 166 rs1201727409 0.2622 None gnomAD-4.0.0 6.57142E-06
9478 82 D/Y 166 None 0.2622 None gnomAD-4.0.0 2.40064E-06
9479 83 S/C 168 None 0.3382 None gnomAD-4.0.0 1.59464E-06
9483 87 Q/R 173 None 0.2472 None gnomAD-4.0.0 2.40064E-06
9484 88 L/P 174 rs1378540444 0.1032 None gnomAD-3.1.2 6.57E-06
9484 88 L/P 174 rs1378540444 0.1032 None gnomAD-4.0.0 2.57691E-06
9486 90 I/T 177 rs746742751 0.2495 None gnomAD-2.1.1 4.04E-06
9486 90 I/T 177 rs746742751 0.2495 None gnomAD-3.1.2 6.57E-06
9486 90 I/T 177 rs746742751 0.2495 None gnomAD-4.0.0 2.59688E-06
9486 90 I/V 177 rs1327402224 0.2495 None gnomAD-2.1.1 7.16E-06
9486 90 I/V 177 rs1327402224 0.2495 None gnomAD-3.1.2 2.63E-05
9486 90 I/V 177 rs1327402224 0.2495 None gnomAD-4.0.0 2.62771E-05