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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 0.1748 None gnomAD-2.1.1 3.19E-05
9397 1 P/L 1 rs1359908699 0.1748 None gnomAD-3.1.2 6.57E-06
9397 1 P/L 1 rs1359908699 0.1748 None gnomAD-4.0.0 6.5735E-06
9397 1 P/S 1 rs1446166655 0.1748 None gnomAD-2.1.1 3.18E-05
9397 1 P/S 1 rs1446166655 0.1748 None gnomAD-4.0.0 1.593E-06
9398 2 F/C 2 None 0.3773 None gnomAD-4.0.0 6.84471E-07
9398 2 F/I 2 rs1299415103 0.3773 None gnomAD-3.1.2 6.57E-06
9398 2 F/I 2 rs1299415103 0.3773 None gnomAD-4.0.0 2.56384E-06
9398 2 F/Y 2 None 0.3773 None gnomAD-4.0.0 6.84471E-07
9399 3 F/I 3 None 0.1126 None gnomAD-4.0.0 1.20032E-06
9400 4 D/G 4 rs1254441947 0.3449 None gnomAD-2.1.1 4.03E-06
9400 4 D/G 4 rs1254441947 0.3449 None gnomAD-3.1.2 1.31E-05
9400 4 D/G 4 rs1254441947 0.3449 None gnomAD-4.0.0 1.23978E-05
9400 4 D/H 4 None 0.3449 None gnomAD-4.0.0 6.84467E-07
9401 5 I/F 5 None 0.5085 None gnomAD-4.0.0 1.59235E-06
9402 6 R/C 7 rs369553799 0.4100 None gnomAD-2.1.1 3.22E-05
9402 6 R/C 7 rs369553799 0.4100 None gnomAD-3.1.2 2.63E-05
9402 6 R/C 7 rs369553799 0.4100 None gnomAD-4.0.0 2.60337E-05
9402 6 R/G 7 None 0.4100 None gnomAD-4.0.0 6.84397E-07
9402 6 R/H 7 rs773986121 0.4100 None gnomAD-2.1.1 6.08E-05
9402 6 R/H 7 rs773986121 0.4100 None gnomAD-3.1.2 5.26E-05
9402 6 R/H 7 rs773986121 0.4100 None gnomAD-4.0.0 3.40917E-05
9402 6 R/L 7 None 0.4100 None gnomAD-4.0.0 3.42187E-06
9403 7 L/V 8 rs752742472 0.1783 None gnomAD-2.1.1 8.06E-06
9403 7 L/V 8 rs752742472 0.1783 None gnomAD-4.0.0 2.73738E-06
9404 8 A/P 9 None 0.5321 None gnomAD-4.0.0 1.36858E-06
9404 8 A/V 9 rs1238309373 0.5321 None gnomAD-4.0.0 2.05287E-06
9406 10 V/M 13 rs1280284347 0.1871 None gnomAD-2.1.1 4.03E-06
9406 10 V/M 13 rs1280284347 0.1871 None gnomAD-4.0.0 1.59116E-06
9408 12 A/T 16 rs767417518 0.1785 None gnomAD-2.1.1 4.03E-06
9408 12 A/T 16 rs767417518 0.1785 None gnomAD-3.1.2 6.57E-06
9408 12 A/T 16 rs767417518 0.1785 None gnomAD-4.0.0 3.04472E-06
9409 13 V/A 18 None 0.3912 None gnomAD-4.0.0 1.20032E-06
9409 13 V/M 18 rs1239606732 0.3912 None gnomAD-2.1.1 7.15E-06
9409 13 V/M 18 rs1239606732 0.3912 None gnomAD-3.1.2 1.97E-05
9409 13 V/M 18 rs1239606732 0.3912 None gnomAD-4.0.0 8.05552E-06
9411 15 G/E 24 rs563866126 0.3655 None gnomAD-2.1.1 2.14E-05
9411 15 G/E 24 rs563866126 0.3655 None gnomAD-3.1.2 5.91E-05
9411 15 G/E 24 rs563866126 0.3655 None 1000 genomes 1.99681E-04
9411 15 G/E 24 rs563866126 0.3655 None gnomAD-4.0.0 1.05335E-05
9412 16 E/G 25 rs766534072 0.3982 None gnomAD-2.1.1 4.02E-06
9412 16 E/G 25 rs766534072 0.3982 None gnomAD-4.0.0 1.36834E-06
9414 18 A/V 28 None 0.1437 None gnomAD-4.0.0 1.20032E-06
9415 19 D/E 29 rs2076551495 0.5160 None gnomAD-3.1.2 6.57E-06
9415 19 D/E 29 rs2076551495 0.5160 None gnomAD-4.0.0 1.59109E-06
9416 20 F/L 30 None 0.1237 None gnomAD-4.0.0 6.84173E-07
9416 20 F/S 30 None 0.1237 None gnomAD-4.0.0 6.84174E-07
9416 20 F/Y 30 rs879120584 0.1237 None gnomAD-2.1.1 7.14E-06
9416 20 F/Y 30 rs879120584 0.1237 None gnomAD-3.1.2 1.97E-05
9416 20 F/Y 30 rs879120584 0.1237 None gnomAD-4.0.0 6.19678E-06
9417 21 E/D 31 rs773169301 0.5143 None gnomAD-2.1.1 8.04E-06
9417 21 E/D 31 rs773169301 0.5143 None gnomAD-3.1.2 1.31E-05
9417 21 E/D 31 rs773169301 0.5143 None gnomAD-4.0.0 3.09838E-06
9418 22 C/R 33 rs770276972 0.0912 None gnomAD-2.1.1 4.02E-06
9418 22 C/R 33 rs770276972 0.0912 None gnomAD-4.0.0 7.95532E-06
9419 23 H/Q 34 rs762212243 0.2396 None gnomAD-2.1.1 4.02E-06
9419 23 H/Q 34 rs762212243 0.2396 None gnomAD-4.0.0 6.84175E-07
9420 24 V/G 35 None 0.1060 None gnomAD-4.0.0 1.59106E-06
9420 24 V/I 35 rs777186750 0.1060 None gnomAD-2.1.1 2.5E-05
9420 24 V/I 35 rs777186750 0.1060 None gnomAD-3.1.2 1.31E-05
9420 24 V/I 35 rs777186750 0.1060 None gnomAD-4.0.0 3.71812E-06
9421 25 T/M 38 rs375209383 0.3243 None gnomAD-2.1.1 8.56E-05
9421 25 T/M 38 rs375209383 0.3243 None gnomAD-3.1.2 4.6E-05
9421 25 T/M 38 rs375209383 0.3243 None gnomAD-4.0.0 7.18783E-05
9421 25 T/S 38 None 0.3243 None gnomAD-4.0.0 1.20032E-06
9423 27 T/I 41 None 0.7573 None gnomAD-4.0.0 1.20032E-06
9424 28 Q/K 42 rs748778927 0.4327 None gnomAD-2.1.1 7.13E-06
9424 28 Q/K 42 rs748778927 0.4327 None gnomAD-3.1.2 6.57E-06
9424 28 Q/K 42 rs748778927 0.4327 None gnomAD-4.0.0 4.33777E-06
9425 29 P/L 43 rs755720364 0.7142 None gnomAD-2.1.1 8.03E-06
9425 29 P/L 43 rs755720364 0.7142 None gnomAD-3.1.2 6.58E-06
9425 29 P/L 43 rs755720364 0.7142 None gnomAD-4.0.0 4.33788E-06
9425 29 P/R 43 rs755720364 0.7142 None gnomAD-2.1.1 8.03E-06
9425 29 P/R 43 rs755720364 0.7142 None gnomAD-4.0.0 1.36832E-06
9425 29 P/S 43 None 0.7142 None gnomAD-4.0.0 1.59102E-06
9426 30 I/T 44 None 0.1208 None gnomAD-4.0.0 3.4208E-06
9427 31 K/N 45 rs1207669528 0.7586 None gnomAD-3.1.2 6.57E-06
9427 31 K/N 45 rs1207669528 0.7586 None gnomAD-4.0.0 6.84161E-07
9428 32 V/F 46 None 0.2397 None gnomAD-4.0.0 5.47328E-06
9428 32 V/I 46 rs1284963573 0.2397 None gnomAD-2.1.1 8.03E-06
9428 32 V/I 46 rs1284963573 0.2397 None gnomAD-4.0.0 4.78912E-06
9428 32 V/L 46 rs1284963573 0.2397 None gnomAD-2.1.1 3.18E-05
9428 32 V/L 46 rs1284963573 0.2397 None gnomAD-3.1.2 1.31E-05
9428 32 V/L 46 rs1284963573 0.2397 None gnomAD-4.0.0 1.31449E-05
9432 36 K/T 50 None 0.1088 None gnomAD-4.0.0 1.20032E-06
9433 37 D/E 51 rs372608982 0.4381 None gnomAD-2.1.1 4.82E-05
9433 37 D/E 51 rs372608982 0.4381 None gnomAD-3.1.2 3.94E-05
9433 37 D/E 51 rs372608982 0.4381 None gnomAD-4.0.0 2.29276E-05
9433 37 D/G 51 rs1441669143 0.4381 None gnomAD-3.1.2 6.57E-06
9433 37 D/G 51 rs1441669143 0.4381 None gnomAD-4.0.0 6.57091E-06
9433 37 D/H 51 rs781329594 0.4381 None gnomAD-2.1.1 4.02E-06
9433 37 D/H 51 rs781329594 0.4381 None gnomAD-4.0.0 1.59099E-06
9434 38 S/I 52 rs751432055 0.8441 None gnomAD-2.1.1 4.02E-06
9434 38 S/I 52 rs751432055 0.8441 None gnomAD-4.0.0 1.36832E-06
9434 38 S/R 52 None 0.8441 None gnomAD-4.0.0 1.59099E-06
9435 39 R/G 55 rs1355846496 0.7995 None gnomAD-2.1.1 4.02E-06
9435 39 R/G 55 rs1355846496 0.7995 None gnomAD-4.0.0 1.59099E-06
9436 40 E/D 56 rs906433178 0.5608 None gnomAD-3.1.2 1.31E-05
9436 40 E/D 56 rs906433178 0.5608 None gnomAD-4.0.0 1.85895E-06
9436 40 E/Q 56 None 0.5608 None gnomAD-4.0.0 1.20032E-06
9437 41 I/T 58 rs1277389231 0.1148 None gnomAD-2.1.1 4.01E-06
9437 41 I/T 58 rs1277389231 0.1148 None gnomAD-4.0.0 1.59098E-06
9438 42 R/Q 59 rs72648998 0.7078 None gnomAD-2.1.1 4.68935E-02
9438 42 R/Q 59 rs72648998 0.7078 None gnomAD-3.1.2 4.08323E-02
9438 42 R/Q 59 rs72648998 0.7078 None 1000 genomes 2.73562E-02
9438 42 R/Q 59 rs72648998 0.7078 None gnomAD-4.0.0 5.42117E-02
9439 43 S/N 70 None 0.5091 None gnomAD-4.0.0 4.77295E-06
9440 44 G/R 73 rs940069606 0.4230 None gnomAD-4.0.0 1.20032E-06
9441 45 G/A 111 None 0.6889 None gnomAD-4.0.0 1.20033E-06
9441 45 G/R 111 rs397517529 0.6889 None gnomAD-2.1.1 1.61E-05
9441 45 G/R 111 rs397517529 0.6889 None gnomAD-3.1.2 6.58E-06
9441 45 G/R 111 rs397517529 0.6889 None gnomAD-4.0.0 8.05581E-06
9444 48 Q/R 122 None 0.6209 None gnomAD-4.0.0 1.20032E-06
9446 50 S/N 125 rs762605364 0.4312 None gnomAD-4.0.0 2.05249E-06
9446 50 S/T 125 None 0.4312 None gnomAD-4.0.0 6.84163E-07
9447 51 Y/C 127 None 0.3244 None gnomAD-4.0.0 1.591E-06
9447 51 Y/H 127 rs1051050691 0.3244 None gnomAD-2.1.1 4.02E-06
9447 51 Y/H 127 rs1051050691 0.3244 None gnomAD-4.0.0 4.10499E-06
9450 54 N/K 134 None 0.3039 None gnomAD-4.0.0 1.20032E-06
9450 54 N/S 134 None 0.3039 None gnomAD-4.0.0 1.20032E-06
9450 54 N/T 134 rs2076533329 0.3039 None gnomAD-3.1.2 6.57E-06
9450 54 N/T 134 rs2076533329 0.3039 None gnomAD-4.0.0 6.57186E-06
9451 55 S/R 135 rs777096848 0.1510 None gnomAD-2.1.1 4.02E-06
9451 55 S/R 135 rs777096848 0.1510 None gnomAD-4.0.0 6.84188E-07
9452 56 A/P 136 rs527663092 0.0888 None gnomAD-2.1.1 1.61E-05
9452 56 A/P 136 rs527663092 0.0888 None gnomAD-4.0.0 8.89436E-06
9452 56 A/T 136 rs527663092 0.0888 None gnomAD-2.1.1 6.02E-05
9452 56 A/T 136 rs527663092 0.0888 None gnomAD-3.1.2 7.23E-05
9452 56 A/T 136 rs527663092 0.0888 None 1000 genomes 1.99681E-04
9452 56 A/T 136 rs527663092 0.0888 None gnomAD-4.0.0 3.65595E-05
9453 57 H/Q 137 None 0.3292 None gnomAD-4.0.0 6.84184E-07
9456 60 V/A 140 rs1185144865 0.0971 None gnomAD-2.1.1 4.02E-06
9456 60 V/A 140 rs1185144865 0.0971 None gnomAD-4.0.0 1.59117E-06
9456 60 V/F 140 rs772549192 0.0971 None gnomAD-2.1.1 4.02E-06
9456 60 V/F 140 rs772549192 0.0971 None gnomAD-4.0.0 4.80129E-06
9457 61 L/V 141 None 0.4235 None gnomAD-4.0.0 2.40064E-06
9459 63 V/A 144 rs541910545 0.1153 None gnomAD-2.1.1 8.03E-06
9459 63 V/A 144 rs541910545 0.1153 None gnomAD-3.1.2 1.31E-05
9459 63 V/A 144 rs541910545 0.1153 None 1000 genomes 1.99681E-04
9459 63 V/A 144 rs541910545 0.1153 None gnomAD-4.0.0 2.47867E-06
9460 64 D/H 145 None 0.3541 None gnomAD-4.0.0 1.59137E-06
9461 65 K/E 146 None 0.8351 None gnomAD-4.0.0 1.20032E-06
9462 66 G/E 148 rs866946485 0.3269 None gnomAD-2.1.1 4.02E-06
9462 66 G/V 148 None 0.3269 None gnomAD-3.1.2 6.57E-06
9462 66 G/V 148 None 0.3269 None gnomAD-4.0.0 6.57272E-06
9463 67 D/N 149 rs769166539 0.1126 None gnomAD-2.1.1 4.02E-06
9463 67 D/N 149 rs769166539 0.1126 None gnomAD-3.1.2 6.57E-06
9463 67 D/N 149 rs769166539 0.1126 None gnomAD-4.0.0 6.56996E-06
9463 67 D/Y 149 rs769166539 0.1126 None gnomAD-2.1.1 4.02E-06
9463 67 D/Y 149 rs769166539 0.1126 None gnomAD-4.0.0 1.59157E-06
9465 69 G/E 152 rs553570568 0.1384 None gnomAD-2.1.1 4.02E-06
9465 69 G/E 152 rs553570568 0.1384 None gnomAD-4.0.0 1.64237E-05
9465 69 G/R 152 rs747684566 0.1384 None gnomAD-2.1.1 4.02E-06
9465 69 G/R 152 rs747684566 0.1384 None gnomAD-4.0.0 6.84308E-07
9466 70 Q/K 153 None 0.5903 None gnomAD-4.0.0 1.36865E-06
9466 70 Q/P 153 rs1215467586 0.5903 None gnomAD-2.1.1 4.02E-06
9466 70 Q/P 153 rs1215467586 0.5903 None gnomAD-4.0.0 1.36865E-06
9467 71 Y/H 154 rs2076528608 0.0983 None gnomAD-4.0.0 1.36866E-06
9468 72 T/I 155 None 0.1351 None gnomAD-4.0.0 1.59206E-06
9468 72 T/S 155 rs1241585388 0.1351 None gnomAD-3.1.2 1.31E-05
9468 72 T/S 155 rs1241585388 0.1351 None gnomAD-4.0.0 1.31413E-05
9470 74 Y/C 157 rs781236320 0.4230 None gnomAD-2.1.1 4.02E-06
9471 75 A/G 158 None 0.1036 None gnomAD-4.0.0 6.8445E-07
9471 75 A/S 158 rs2076526997 0.1036 None gnomAD-4.0.0 6.84433E-07
9471 75 A/T 158 None 0.1036 None gnomAD-4.0.0 6.84433E-07
9472 76 V/G 159 rs1257120493 0.3476 None gnomAD-2.1.1 1.2E-05
9472 76 V/G 159 rs1257120493 0.3476 None gnomAD-4.0.0 3.4225E-06
9472 76 V/L 159 None 0.3476 None gnomAD-4.0.0 1.20032E-05
9473 77 N/H 161 None 0.1785 None gnomAD-4.0.0 3.18585E-06
9473 77 N/S 161 rs2076526398 0.1785 None gnomAD-4.0.0 1.59291E-06
9475 79 V/E 163 None 0.8941 None gnomAD-4.0.0 1.5934E-06
9475 79 V/G 163 rs1363580617 0.8941 None gnomAD-2.1.1 1.07E-05
9475 79 V/G 163 rs1363580617 0.8941 None gnomAD-3.1.2 6.57E-06
9475 79 V/G 163 rs1363580617 0.8941 None gnomAD-4.0.0 3.84761E-06
9475 79 V/L 163 rs754971247 0.8941 None gnomAD-2.1.1 8.03E-06
9475 79 V/L 163 rs754971247 0.8941 None gnomAD-4.0.0 3.18667E-06
9476 80 G/V 164 None 0.2698 None gnomAD-4.0.0 1.59372E-06
9477 81 K/E 165 None 0.8216 None gnomAD-4.0.0 1.20032E-05
9477 81 K/R 165 None 0.8216 None gnomAD-4.0.0 3.18772E-06
9478 82 D/A 166 rs1553887887 0.2340 None gnomAD-4.0.0 3.60097E-06
9478 82 D/N 166 rs1201727409 0.2340 None gnomAD-3.1.2 6.57E-06
9478 82 D/N 166 rs1201727409 0.2340 None gnomAD-4.0.0 6.57142E-06
9478 82 D/Y 166 None 0.2340 None gnomAD-4.0.0 2.40064E-06
9479 83 S/C 168 None 0.3213 None gnomAD-4.0.0 1.59464E-06
9483 87 Q/R 173 None 0.2374 None gnomAD-4.0.0 2.40064E-06
9484 88 L/P 174 rs1378540444 0.0897 None gnomAD-3.1.2 6.57E-06
9484 88 L/P 174 rs1378540444 0.0897 None gnomAD-4.0.0 2.57691E-06
9486 90 I/T 177 rs746742751 0.2449 None gnomAD-2.1.1 4.04E-06
9486 90 I/T 177 rs746742751 0.2449 None gnomAD-3.1.2 6.57E-06
9486 90 I/T 177 rs746742751 0.2449 None gnomAD-4.0.0 2.59688E-06
9486 90 I/V 177 rs1327402224 0.2449 None gnomAD-2.1.1 7.16E-06
9486 90 I/V 177 rs1327402224 0.2449 None gnomAD-3.1.2 2.63E-05
9486 90 I/V 177 rs1327402224 0.2449 None gnomAD-4.0.0 2.62771E-05