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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 0.2445 None gnomAD-2.1.1 3.19E-05
9397 1 P/L 1 rs1359908699 0.2445 None gnomAD-3.1.2 6.57E-06
9397 1 P/L 1 rs1359908699 0.2445 None gnomAD-4.0.0 6.5735E-06
9397 1 P/S 1 rs1446166655 0.2445 None gnomAD-2.1.1 3.18E-05
9397 1 P/S 1 rs1446166655 0.2445 None gnomAD-4.0.0 1.593E-06
9398 2 F/C 2 None 0.4742 None gnomAD-4.0.0 6.84471E-07
9398 2 F/I 2 rs1299415103 0.4742 None gnomAD-3.1.2 6.57E-06
9398 2 F/I 2 rs1299415103 0.4742 None gnomAD-4.0.0 2.56384E-06
9398 2 F/Y 2 None 0.4742 None gnomAD-4.0.0 6.84471E-07
9399 3 F/I 3 None 0.1037 None gnomAD-4.0.0 1.20032E-06
9400 4 D/G 4 rs1254441947 0.3160 None gnomAD-2.1.1 4.03E-06
9400 4 D/G 4 rs1254441947 0.3160 None gnomAD-3.1.2 1.31E-05
9400 4 D/G 4 rs1254441947 0.3160 None gnomAD-4.0.0 1.23978E-05
9400 4 D/H 4 None 0.3160 None gnomAD-4.0.0 6.84467E-07
9401 5 I/F 5 None 0.4605 None gnomAD-4.0.0 1.59235E-06
9402 6 R/C 7 rs369553799 0.5057 None gnomAD-2.1.1 3.22E-05
9402 6 R/C 7 rs369553799 0.5057 None gnomAD-3.1.2 2.63E-05
9402 6 R/C 7 rs369553799 0.5057 None gnomAD-4.0.0 2.60337E-05
9402 6 R/G 7 None 0.5057 None gnomAD-4.0.0 6.84397E-07
9402 6 R/H 7 rs773986121 0.5057 None gnomAD-2.1.1 6.08E-05
9402 6 R/H 7 rs773986121 0.5057 None gnomAD-3.1.2 5.26E-05
9402 6 R/H 7 rs773986121 0.5057 None gnomAD-4.0.0 3.40917E-05
9402 6 R/L 7 None 0.5057 None gnomAD-4.0.0 3.42187E-06
9403 7 L/V 8 rs752742472 0.1982 None gnomAD-2.1.1 8.06E-06
9403 7 L/V 8 rs752742472 0.1982 None gnomAD-4.0.0 2.73738E-06
9404 8 A/P 9 None 0.5471 None gnomAD-4.0.0 1.36858E-06
9404 8 A/V 9 rs1238309373 0.5471 None gnomAD-4.0.0 2.05287E-06
9406 10 V/M 13 rs1280284347 0.2407 None gnomAD-2.1.1 4.03E-06
9406 10 V/M 13 rs1280284347 0.2407 None gnomAD-4.0.0 1.59116E-06
9408 12 A/T 16 rs767417518 0.1933 None gnomAD-2.1.1 4.03E-06
9408 12 A/T 16 rs767417518 0.1933 None gnomAD-3.1.2 6.57E-06
9408 12 A/T 16 rs767417518 0.1933 None gnomAD-4.0.0 3.04472E-06
9409 13 V/A 18 None 0.5106 None gnomAD-4.0.0 1.20032E-06
9409 13 V/M 18 rs1239606732 0.5106 None gnomAD-2.1.1 7.15E-06
9409 13 V/M 18 rs1239606732 0.5106 None gnomAD-3.1.2 1.97E-05
9409 13 V/M 18 rs1239606732 0.5106 None gnomAD-4.0.0 8.05552E-06
9411 15 G/E 24 rs563866126 0.3892 None gnomAD-2.1.1 2.14E-05
9411 15 G/E 24 rs563866126 0.3892 None gnomAD-3.1.2 5.91E-05
9411 15 G/E 24 rs563866126 0.3892 None 1000 genomes 1.99681E-04
9411 15 G/E 24 rs563866126 0.3892 None gnomAD-4.0.0 1.05335E-05
9412 16 E/G 25 rs766534072 0.4180 None gnomAD-2.1.1 4.02E-06
9412 16 E/G 25 rs766534072 0.4180 None gnomAD-4.0.0 1.36834E-06
9414 18 A/V 28 None 0.1738 None gnomAD-4.0.0 1.20032E-06
9415 19 D/E 29 rs2076551495 0.4977 None gnomAD-3.1.2 6.57E-06
9415 19 D/E 29 rs2076551495 0.4977 None gnomAD-4.0.0 1.59109E-06
9416 20 F/L 30 None 0.1387 None gnomAD-4.0.0 6.84173E-07
9416 20 F/S 30 None 0.1387 None gnomAD-4.0.0 6.84174E-07
9416 20 F/Y 30 rs879120584 0.1387 None gnomAD-2.1.1 7.14E-06
9416 20 F/Y 30 rs879120584 0.1387 None gnomAD-3.1.2 1.97E-05
9416 20 F/Y 30 rs879120584 0.1387 None gnomAD-4.0.0 6.19678E-06
9417 21 E/D 31 rs773169301 0.4679 None gnomAD-2.1.1 8.04E-06
9417 21 E/D 31 rs773169301 0.4679 None gnomAD-3.1.2 1.31E-05
9417 21 E/D 31 rs773169301 0.4679 None gnomAD-4.0.0 3.09838E-06
9418 22 C/R 33 rs770276972 0.1091 None gnomAD-2.1.1 4.02E-06
9418 22 C/R 33 rs770276972 0.1091 None gnomAD-4.0.0 7.95532E-06
9419 23 H/Q 34 rs762212243 0.2235 None gnomAD-2.1.1 4.02E-06
9419 23 H/Q 34 rs762212243 0.2235 None gnomAD-4.0.0 6.84175E-07
9420 24 V/G 35 None 0.1055 None gnomAD-4.0.0 1.59106E-06
9420 24 V/I 35 rs777186750 0.1055 None gnomAD-2.1.1 2.5E-05
9420 24 V/I 35 rs777186750 0.1055 None gnomAD-3.1.2 1.31E-05
9420 24 V/I 35 rs777186750 0.1055 None gnomAD-4.0.0 3.71812E-06
9421 25 T/M 38 rs375209383 0.3404 None gnomAD-2.1.1 8.56E-05
9421 25 T/M 38 rs375209383 0.3404 None gnomAD-3.1.2 4.6E-05
9421 25 T/M 38 rs375209383 0.3404 None gnomAD-4.0.0 7.18783E-05
9421 25 T/S 38 None 0.3404 None gnomAD-4.0.0 1.20032E-06
9423 27 T/I 41 None 0.6749 None gnomAD-4.0.0 1.20032E-06
9424 28 Q/K 42 rs748778927 0.4594 None gnomAD-2.1.1 7.13E-06
9424 28 Q/K 42 rs748778927 0.4594 None gnomAD-3.1.2 6.57E-06
9424 28 Q/K 42 rs748778927 0.4594 None gnomAD-4.0.0 4.33777E-06
9425 29 P/L 43 rs755720364 0.7394 None gnomAD-2.1.1 8.03E-06
9425 29 P/L 43 rs755720364 0.7394 None gnomAD-3.1.2 6.58E-06
9425 29 P/L 43 rs755720364 0.7394 None gnomAD-4.0.0 4.33788E-06
9425 29 P/R 43 rs755720364 0.7394 None gnomAD-2.1.1 8.03E-06
9425 29 P/R 43 rs755720364 0.7394 None gnomAD-4.0.0 1.36832E-06
9425 29 P/S 43 None 0.7394 None gnomAD-4.0.0 1.59102E-06
9426 30 I/T 44 None 0.1768 None gnomAD-4.0.0 3.4208E-06
9427 31 K/N 45 rs1207669528 0.7719 None gnomAD-3.1.2 6.57E-06
9427 31 K/N 45 rs1207669528 0.7719 None gnomAD-4.0.0 6.84161E-07
9428 32 V/F 46 None 0.2545 None gnomAD-4.0.0 5.47328E-06
9428 32 V/I 46 rs1284963573 0.2545 None gnomAD-2.1.1 8.03E-06
9428 32 V/I 46 rs1284963573 0.2545 None gnomAD-4.0.0 4.78912E-06
9428 32 V/L 46 rs1284963573 0.2545 None gnomAD-2.1.1 3.18E-05
9428 32 V/L 46 rs1284963573 0.2545 None gnomAD-3.1.2 1.31E-05
9428 32 V/L 46 rs1284963573 0.2545 None gnomAD-4.0.0 1.31449E-05
9432 36 K/T 50 None 0.1082 None gnomAD-4.0.0 1.20032E-06
9433 37 D/E 51 rs372608982 0.4116 None gnomAD-2.1.1 4.82E-05
9433 37 D/E 51 rs372608982 0.4116 None gnomAD-3.1.2 3.94E-05
9433 37 D/E 51 rs372608982 0.4116 None gnomAD-4.0.0 2.29276E-05
9433 37 D/G 51 rs1441669143 0.4116 None gnomAD-3.1.2 6.57E-06
9433 37 D/G 51 rs1441669143 0.4116 None gnomAD-4.0.0 6.57091E-06
9433 37 D/H 51 rs781329594 0.4116 None gnomAD-2.1.1 4.02E-06
9433 37 D/H 51 rs781329594 0.4116 None gnomAD-4.0.0 1.59099E-06
9434 38 S/I 52 rs751432055 0.8216 None gnomAD-2.1.1 4.02E-06
9434 38 S/I 52 rs751432055 0.8216 None gnomAD-4.0.0 1.36832E-06
9434 38 S/R 52 None 0.8216 None gnomAD-4.0.0 1.59099E-06
9435 39 R/G 55 rs1355846496 0.7786 None gnomAD-2.1.1 4.02E-06
9435 39 R/G 55 rs1355846496 0.7786 None gnomAD-4.0.0 1.59099E-06
9436 40 E/D 56 rs906433178 0.5623 None gnomAD-3.1.2 1.31E-05
9436 40 E/D 56 rs906433178 0.5623 None gnomAD-4.0.0 1.85895E-06
9436 40 E/Q 56 None 0.5623 None gnomAD-4.0.0 1.20032E-06
9437 41 I/T 58 rs1277389231 0.1172 None gnomAD-2.1.1 4.01E-06
9437 41 I/T 58 rs1277389231 0.1172 None gnomAD-4.0.0 1.59098E-06
9438 42 R/Q 59 rs72648998 0.6903 None gnomAD-2.1.1 4.68935E-02
9438 42 R/Q 59 rs72648998 0.6903 None gnomAD-3.1.2 4.08323E-02
9438 42 R/Q 59 rs72648998 0.6903 None 1000 genomes 2.73562E-02
9438 42 R/Q 59 rs72648998 0.6903 None gnomAD-4.0.0 5.42117E-02
9439 43 S/N 70 None 0.4970 None gnomAD-4.0.0 4.77295E-06
9440 44 G/R 73 rs940069606 0.4585 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 0.5617 None gnomAD-4.0.0 1.20032E-06
9446 50 S/N 125 rs762605364 0.4242 None gnomAD-4.0.0 2.05249E-06
9446 50 S/T 125 None 0.4242 None gnomAD-4.0.0 6.84163E-07
9447 51 Y/C 127 None 0.3408 None gnomAD-4.0.0 1.591E-06
9447 51 Y/H 127 rs1051050691 0.3408 None gnomAD-2.1.1 4.02E-06
9447 51 Y/H 127 rs1051050691 0.3408 None gnomAD-4.0.0 4.10499E-06
9450 54 N/K 134 None 0.3752 None gnomAD-4.0.0 1.20032E-06
9450 54 N/S 134 None 0.3752 None gnomAD-4.0.0 1.20032E-06
9450 54 N/T 134 rs2076533329 0.3752 None gnomAD-3.1.2 6.57E-06
9450 54 N/T 134 rs2076533329 0.3752 None gnomAD-4.0.0 6.57186E-06
9451 55 S/R 135 rs777096848 0.2000 None gnomAD-2.1.1 4.02E-06
9451 55 S/R 135 rs777096848 0.2000 None gnomAD-4.0.0 6.84188E-07
9452 56 A/P 136 rs527663092 0.0967 None gnomAD-2.1.1 1.61E-05
9452 56 A/P 136 rs527663092 0.0967 None gnomAD-4.0.0 8.89436E-06
9452 56 A/T 136 rs527663092 0.0967 None gnomAD-2.1.1 6.02E-05
9452 56 A/T 136 rs527663092 0.0967 None gnomAD-3.1.2 7.23E-05
9452 56 A/T 136 rs527663092 0.0967 None 1000 genomes 1.99681E-04
9452 56 A/T 136 rs527663092 0.0967 None gnomAD-4.0.0 3.65595E-05
9453 57 H/Q 137 None 0.4317 None gnomAD-4.0.0 6.84184E-07
9456 60 V/A 140 rs1185144865 0.1104 None gnomAD-2.1.1 4.02E-06
9456 60 V/A 140 rs1185144865 0.1104 None gnomAD-4.0.0 1.59117E-06
9456 60 V/F 140 rs772549192 0.1104 None gnomAD-2.1.1 4.02E-06
9456 60 V/F 140 rs772549192 0.1104 None gnomAD-4.0.0 4.80129E-06
9457 61 L/V 141 None 0.4362 None gnomAD-4.0.0 2.40064E-06
9459 63 V/A 144 rs541910545 0.1270 None gnomAD-2.1.1 8.03E-06
9459 63 V/A 144 rs541910545 0.1270 None gnomAD-3.1.2 1.31E-05
9459 63 V/A 144 rs541910545 0.1270 None 1000 genomes 1.99681E-04
9459 63 V/A 144 rs541910545 0.1270 None gnomAD-4.0.0 2.47867E-06
9460 64 D/H 145 None 0.3509 None gnomAD-4.0.0 1.59137E-06
9461 65 K/E 146 None 0.8369 None gnomAD-4.0.0 1.20032E-06
9462 66 G/E 148 rs866946485 0.3883 None gnomAD-2.1.1 4.02E-06
9462 66 G/V 148 None 0.3883 None gnomAD-3.1.2 6.57E-06
9462 66 G/V 148 None 0.3883 None gnomAD-4.0.0 6.57272E-06
9463 67 D/N 149 rs769166539 0.1681 None gnomAD-2.1.1 4.02E-06
9463 67 D/N 149 rs769166539 0.1681 None gnomAD-3.1.2 6.57E-06
9463 67 D/N 149 rs769166539 0.1681 None gnomAD-4.0.0 6.56996E-06
9463 67 D/Y 149 rs769166539 0.1681 None gnomAD-2.1.1 4.02E-06
9463 67 D/Y 149 rs769166539 0.1681 None gnomAD-4.0.0 1.59157E-06
9465 69 G/E 152 rs553570568 0.1479 None gnomAD-2.1.1 4.02E-06
9465 69 G/E 152 rs553570568 0.1479 None gnomAD-4.0.0 1.64237E-05
9465 69 G/R 152 rs747684566 0.1479 None gnomAD-2.1.1 4.02E-06
9465 69 G/R 152 rs747684566 0.1479 None gnomAD-4.0.0 6.84308E-07
9466 70 Q/K 153 None 0.5564 None gnomAD-4.0.0 1.36865E-06
9466 70 Q/P 153 rs1215467586 0.5564 None gnomAD-2.1.1 4.02E-06
9466 70 Q/P 153 rs1215467586 0.5564 None gnomAD-4.0.0 1.36865E-06
9467 71 Y/H 154 rs2076528608 0.0999 None gnomAD-4.0.0 1.36866E-06
9468 72 T/I 155 None 0.1458 None gnomAD-4.0.0 1.59206E-06
9468 72 T/S 155 rs1241585388 0.1458 None gnomAD-3.1.2 1.31E-05
9468 72 T/S 155 rs1241585388 0.1458 None gnomAD-4.0.0 1.31413E-05
9470 74 Y/C 157 rs781236320 0.4325 None gnomAD-2.1.1 4.02E-06
9471 75 A/G 158 None 0.1152 None gnomAD-4.0.0 6.8445E-07
9471 75 A/S 158 rs2076526997 0.1152 None gnomAD-4.0.0 6.84433E-07
9471 75 A/T 158 None 0.1152 None gnomAD-4.0.0 6.84433E-07
9472 76 V/G 159 rs1257120493 0.3608 None gnomAD-2.1.1 1.2E-05
9472 76 V/G 159 rs1257120493 0.3608 None gnomAD-4.0.0 3.4225E-06
9472 76 V/L 159 None 0.3608 None gnomAD-4.0.0 1.20032E-05
9473 77 N/H 161 None 0.1653 None gnomAD-4.0.0 3.18585E-06
9473 77 N/S 161 rs2076526398 0.1653 None gnomAD-4.0.0 1.59291E-06
9475 79 V/E 163 None 0.8319 None gnomAD-4.0.0 1.5934E-06
9475 79 V/G 163 rs1363580617 0.8319 None gnomAD-2.1.1 1.07E-05
9475 79 V/G 163 rs1363580617 0.8319 None gnomAD-3.1.2 6.57E-06
9475 79 V/G 163 rs1363580617 0.8319 None gnomAD-4.0.0 3.84761E-06
9475 79 V/L 163 rs754971247 0.8319 None gnomAD-2.1.1 8.03E-06
9475 79 V/L 163 rs754971247 0.8319 None gnomAD-4.0.0 3.18667E-06
9476 80 G/V 164 None 0.2391 None gnomAD-4.0.0 1.59372E-06
9477 81 K/E 165 None 0.8154 None gnomAD-4.0.0 1.20032E-05
9477 81 K/R 165 None 0.8154 None gnomAD-4.0.0 3.18772E-06
9478 82 D/A 166 rs1553887887 0.2384 None gnomAD-4.0.0 3.60097E-06
9478 82 D/N 166 rs1201727409 0.2384 None gnomAD-3.1.2 6.57E-06
9478 82 D/N 166 rs1201727409 0.2384 None gnomAD-4.0.0 6.57142E-06
9478 82 D/Y 166 None 0.2384 None gnomAD-4.0.0 2.40064E-06
9479 83 S/C 168 None 0.2917 None gnomAD-4.0.0 1.59464E-06
9483 87 Q/R 173 None 0.2407 None gnomAD-4.0.0 2.40064E-06
9484 88 L/P 174 rs1378540444 0.1315 None gnomAD-3.1.2 6.57E-06
9484 88 L/P 174 rs1378540444 0.1315 None gnomAD-4.0.0 2.57691E-06
9486 90 I/T 177 rs746742751 0.2834 None gnomAD-2.1.1 4.04E-06
9486 90 I/T 177 rs746742751 0.2834 None gnomAD-3.1.2 6.57E-06
9486 90 I/T 177 rs746742751 0.2834 None gnomAD-4.0.0 2.59688E-06
9486 90 I/V 177 rs1327402224 0.2834 None gnomAD-2.1.1 7.16E-06
9486 90 I/V 177 rs1327402224 0.2834 None gnomAD-3.1.2 2.63E-05
9486 90 I/V 177 rs1327402224 0.2834 None gnomAD-4.0.0 2.62771E-05