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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 E R L I P P S F T K R L S E T V E E T E G N S F K L E G R V A G S Q P I T V A W Y K N N I E I Q P T S N C E I T F K N N T L V L Q V R K A G M N D A G L Y T C K V S N D A G S A L C T S S I V 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 0.1727 None gnomAD-2.1.1 3.19E-05
9397 1 P/L 1 rs1359908699 0.1727 None gnomAD-3.1.2 6.57E-06
9397 1 P/L 1 rs1359908699 0.1727 None gnomAD-4.0.0 6.5735E-06
9397 1 P/S 1 rs1446166655 0.1727 None gnomAD-2.1.1 3.18E-05
9397 1 P/S 1 rs1446166655 0.1727 None gnomAD-4.0.0 1.593E-06
9398 2 F/C 2 None 0.3993 None gnomAD-4.0.0 6.84471E-07
9398 2 F/I 2 rs1299415103 0.3993 None gnomAD-3.1.2 6.57E-06
9398 2 F/I 2 rs1299415103 0.3993 None gnomAD-4.0.0 2.56384E-06
9398 2 F/Y 2 None 0.3993 None gnomAD-4.0.0 6.84471E-07
9399 3 F/I 3 None 0.1070 None gnomAD-4.0.0 1.20032E-06
9400 4 D/G 4 rs1254441947 0.3361 None gnomAD-2.1.1 4.03E-06
9400 4 D/G 4 rs1254441947 0.3361 None gnomAD-3.1.2 1.31E-05
9400 4 D/G 4 rs1254441947 0.3361 None gnomAD-4.0.0 1.23978E-05
9400 4 D/H 4 None 0.3361 None gnomAD-4.0.0 6.84467E-07
9401 5 I/F 5 None 0.5123 None gnomAD-4.0.0 1.59235E-06
9402 6 R/C 7 rs369553799 0.4171 None gnomAD-2.1.1 3.22E-05
9402 6 R/C 7 rs369553799 0.4171 None gnomAD-3.1.2 2.63E-05
9402 6 R/C 7 rs369553799 0.4171 None gnomAD-4.0.0 2.60337E-05
9402 6 R/G 7 None 0.4171 None gnomAD-4.0.0 6.84397E-07
9402 6 R/H 7 rs773986121 0.4171 None gnomAD-2.1.1 6.08E-05
9402 6 R/H 7 rs773986121 0.4171 None gnomAD-3.1.2 5.26E-05
9402 6 R/H 7 rs773986121 0.4171 None gnomAD-4.0.0 3.40917E-05
9402 6 R/L 7 None 0.4171 None gnomAD-4.0.0 3.42187E-06
9403 7 L/V 8 rs752742472 0.1709 None gnomAD-2.1.1 8.06E-06
9403 7 L/V 8 rs752742472 0.1709 None gnomAD-4.0.0 2.73738E-06
9404 8 A/P 9 None 0.5216 None gnomAD-4.0.0 1.36858E-06
9404 8 A/V 9 rs1238309373 0.5216 None gnomAD-4.0.0 2.05287E-06
9406 10 V/M 13 rs1280284347 0.1868 None gnomAD-2.1.1 4.03E-06
9406 10 V/M 13 rs1280284347 0.1868 None gnomAD-4.0.0 1.59116E-06
9408 12 A/T 16 rs767417518 0.1677 None gnomAD-2.1.1 4.03E-06
9408 12 A/T 16 rs767417518 0.1677 None gnomAD-3.1.2 6.57E-06
9408 12 A/T 16 rs767417518 0.1677 None gnomAD-4.0.0 3.04472E-06
9409 13 V/A 18 None 0.2482 None gnomAD-4.0.0 1.20032E-06
9409 13 V/M 18 rs1239606732 0.2482 None gnomAD-2.1.1 7.15E-06
9409 13 V/M 18 rs1239606732 0.2482 None gnomAD-3.1.2 1.97E-05
9409 13 V/M 18 rs1239606732 0.2482 None gnomAD-4.0.0 8.05552E-06
9411 15 G/E 24 rs563866126 0.3420 None gnomAD-2.1.1 2.14E-05
9411 15 G/E 24 rs563866126 0.3420 None gnomAD-3.1.2 5.91E-05
9411 15 G/E 24 rs563866126 0.3420 None 1000 genomes 1.99681E-04
9411 15 G/E 24 rs563866126 0.3420 None gnomAD-4.0.0 1.05335E-05
9412 16 E/G 25 rs766534072 0.4212 None gnomAD-2.1.1 4.02E-06
9412 16 E/G 25 rs766534072 0.4212 None gnomAD-4.0.0 1.36834E-06
9414 18 A/V 28 None 0.1404 None gnomAD-4.0.0 1.20032E-06
9415 19 D/E 29 rs2076551495 0.4870 None gnomAD-3.1.2 6.57E-06
9415 19 D/E 29 rs2076551495 0.4870 None gnomAD-4.0.0 1.59109E-06
9416 20 F/L 30 None 0.1189 None gnomAD-4.0.0 6.84173E-07
9416 20 F/S 30 None 0.1189 None gnomAD-4.0.0 6.84174E-07
9416 20 F/Y 30 rs879120584 0.1189 None gnomAD-2.1.1 7.14E-06
9416 20 F/Y 30 rs879120584 0.1189 None gnomAD-3.1.2 1.97E-05
9416 20 F/Y 30 rs879120584 0.1189 None gnomAD-4.0.0 6.19678E-06
9417 21 E/D 31 rs773169301 0.4478 None gnomAD-2.1.1 8.04E-06
9417 21 E/D 31 rs773169301 0.4478 None gnomAD-3.1.2 1.31E-05
9417 21 E/D 31 rs773169301 0.4478 None gnomAD-4.0.0 3.09838E-06
9418 22 C/R 33 rs770276972 0.0879 None gnomAD-2.1.1 4.02E-06
9418 22 C/R 33 rs770276972 0.0879 None gnomAD-4.0.0 7.95532E-06
9419 23 H/Q 34 rs762212243 0.2368 None gnomAD-2.1.1 4.02E-06
9419 23 H/Q 34 rs762212243 0.2368 None gnomAD-4.0.0 6.84175E-07
9420 24 V/G 35 None 0.0992 None gnomAD-4.0.0 1.59106E-06
9420 24 V/I 35 rs777186750 0.0992 None gnomAD-2.1.1 2.5E-05
9420 24 V/I 35 rs777186750 0.0992 None gnomAD-3.1.2 1.31E-05
9420 24 V/I 35 rs777186750 0.0992 None gnomAD-4.0.0 3.71812E-06
9421 25 T/M 38 rs375209383 0.2376 None gnomAD-2.1.1 8.56E-05
9421 25 T/M 38 rs375209383 0.2376 None gnomAD-3.1.2 4.6E-05
9421 25 T/M 38 rs375209383 0.2376 None gnomAD-4.0.0 7.18783E-05
9421 25 T/S 38 None 0.2376 None gnomAD-4.0.0 1.20032E-06
9423 27 T/I 41 None 0.7549 None gnomAD-4.0.0 1.20032E-06
9424 28 Q/K 42 rs748778927 0.4235 None gnomAD-2.1.1 7.13E-06
9424 28 Q/K 42 rs748778927 0.4235 None gnomAD-3.1.2 6.57E-06
9424 28 Q/K 42 rs748778927 0.4235 None gnomAD-4.0.0 4.33777E-06
9425 29 P/L 43 rs755720364 0.7051 None gnomAD-2.1.1 8.03E-06
9425 29 P/L 43 rs755720364 0.7051 None gnomAD-3.1.2 6.58E-06
9425 29 P/L 43 rs755720364 0.7051 None gnomAD-4.0.0 4.33788E-06
9425 29 P/R 43 rs755720364 0.7051 None gnomAD-2.1.1 8.03E-06
9425 29 P/R 43 rs755720364 0.7051 None gnomAD-4.0.0 1.36832E-06
9425 29 P/S 43 None 0.7051 None gnomAD-4.0.0 1.59102E-06
9426 30 I/T 44 None 0.1153 None gnomAD-4.0.0 3.4208E-06
9427 31 K/N 45 rs1207669528 0.7550 None gnomAD-3.1.2 6.57E-06
9427 31 K/N 45 rs1207669528 0.7550 None gnomAD-4.0.0 6.84161E-07
9428 32 V/F 46 None 0.2390 None gnomAD-4.0.0 5.47328E-06
9428 32 V/I 46 rs1284963573 0.2390 None gnomAD-2.1.1 8.03E-06
9428 32 V/I 46 rs1284963573 0.2390 None gnomAD-4.0.0 4.78912E-06
9428 32 V/L 46 rs1284963573 0.2390 None gnomAD-2.1.1 3.18E-05
9428 32 V/L 46 rs1284963573 0.2390 None gnomAD-3.1.2 1.31E-05
9428 32 V/L 46 rs1284963573 0.2390 None gnomAD-4.0.0 1.31449E-05
9432 36 K/T 50 None 0.1100 None gnomAD-4.0.0 1.20032E-06
9433 37 D/E 51 rs372608982 0.4439 None gnomAD-2.1.1 4.82E-05
9433 37 D/E 51 rs372608982 0.4439 None gnomAD-3.1.2 3.94E-05
9433 37 D/E 51 rs372608982 0.4439 None gnomAD-4.0.0 2.29276E-05
9433 37 D/G 51 rs1441669143 0.4439 None gnomAD-3.1.2 6.57E-06
9433 37 D/G 51 rs1441669143 0.4439 None gnomAD-4.0.0 6.57091E-06
9433 37 D/H 51 rs781329594 0.4439 None gnomAD-2.1.1 4.02E-06
9433 37 D/H 51 rs781329594 0.4439 None gnomAD-4.0.0 1.59099E-06
9434 38 S/I 52 rs751432055 0.8395 None gnomAD-2.1.1 4.02E-06
9434 38 S/I 52 rs751432055 0.8395 None gnomAD-4.0.0 1.36832E-06
9434 38 S/R 52 None 0.8395 None gnomAD-4.0.0 1.59099E-06
9435 39 R/G 55 rs1355846496 0.7859 None gnomAD-2.1.1 4.02E-06
9435 39 R/G 55 rs1355846496 0.7859 None gnomAD-4.0.0 1.59099E-06
9436 40 E/D 56 rs906433178 0.5459 None gnomAD-3.1.2 1.31E-05
9436 40 E/D 56 rs906433178 0.5459 None gnomAD-4.0.0 1.85895E-06
9436 40 E/Q 56 None 0.5459 None gnomAD-4.0.0 1.20032E-06
9437 41 I/T 58 rs1277389231 0.1178 None gnomAD-2.1.1 4.01E-06
9437 41 I/T 58 rs1277389231 0.1178 None gnomAD-4.0.0 1.59098E-06
9438 42 R/Q 59 rs72648998 0.7083 None gnomAD-2.1.1 4.68935E-02
9438 42 R/Q 59 rs72648998 0.7083 None gnomAD-3.1.2 4.08323E-02
9438 42 R/Q 59 rs72648998 0.7083 None 1000 genomes 2.73562E-02
9438 42 R/Q 59 rs72648998 0.7083 None gnomAD-4.0.0 5.42117E-02
9439 43 S/N 70 None 0.4939 None gnomAD-4.0.0 4.77295E-06
9440 44 G/R 73 rs940069606 0.4263 None gnomAD-4.0.0 1.20032E-06
9441 45 G/A 111 None 0.7864 None gnomAD-4.0.0 1.20033E-06
9441 45 G/R 111 rs397517529 0.7864 None gnomAD-2.1.1 1.61E-05
9441 45 G/R 111 rs397517529 0.7864 None gnomAD-3.1.2 6.58E-06
9441 45 G/R 111 rs397517529 0.7864 None gnomAD-4.0.0 8.05581E-06
9444 48 Q/R 122 None 0.6119 None gnomAD-4.0.0 1.20032E-06
9446 50 S/N 125 rs762605364 0.4382 None gnomAD-4.0.0 2.05249E-06
9446 50 S/T 125 None 0.4382 None gnomAD-4.0.0 6.84163E-07
9447 51 Y/C 127 None 0.3298 None gnomAD-4.0.0 1.591E-06
9447 51 Y/H 127 rs1051050691 0.3298 None gnomAD-2.1.1 4.02E-06
9447 51 Y/H 127 rs1051050691 0.3298 None gnomAD-4.0.0 4.10499E-06
9450 54 N/K 134 None 0.3223 None gnomAD-4.0.0 1.20032E-06
9450 54 N/S 134 None 0.3223 None gnomAD-4.0.0 1.20032E-06
9450 54 N/T 134 rs2076533329 0.3223 None gnomAD-3.1.2 6.57E-06
9450 54 N/T 134 rs2076533329 0.3223 None gnomAD-4.0.0 6.57186E-06
9451 55 S/R 135 rs777096848 0.1362 None gnomAD-2.1.1 4.02E-06
9451 55 S/R 135 rs777096848 0.1362 None gnomAD-4.0.0 6.84188E-07
9452 56 A/P 136 rs527663092 0.0890 None gnomAD-2.1.1 1.61E-05
9452 56 A/P 136 rs527663092 0.0890 None gnomAD-4.0.0 8.89436E-06
9452 56 A/T 136 rs527663092 0.0890 None gnomAD-2.1.1 6.02E-05
9452 56 A/T 136 rs527663092 0.0890 None gnomAD-3.1.2 7.23E-05
9452 56 A/T 136 rs527663092 0.0890 None 1000 genomes 1.99681E-04
9452 56 A/T 136 rs527663092 0.0890 None gnomAD-4.0.0 3.65595E-05
9453 57 H/Q 137 None 0.3504 None gnomAD-4.0.0 6.84184E-07
9456 60 V/A 140 rs1185144865 0.0994 None gnomAD-2.1.1 4.02E-06
9456 60 V/A 140 rs1185144865 0.0994 None gnomAD-4.0.0 1.59117E-06
9456 60 V/F 140 rs772549192 0.0994 None gnomAD-2.1.1 4.02E-06
9456 60 V/F 140 rs772549192 0.0994 None gnomAD-4.0.0 4.80129E-06
9457 61 L/V 141 None 0.4490 None gnomAD-4.0.0 2.40064E-06
9459 63 V/A 144 rs541910545 0.1132 None gnomAD-2.1.1 8.03E-06
9459 63 V/A 144 rs541910545 0.1132 None gnomAD-3.1.2 1.31E-05
9459 63 V/A 144 rs541910545 0.1132 None 1000 genomes 1.99681E-04
9459 63 V/A 144 rs541910545 0.1132 None gnomAD-4.0.0 2.47867E-06
9460 64 D/H 145 None 0.3545 None gnomAD-4.0.0 1.59137E-06
9461 65 K/E 146 None 0.6644 None gnomAD-4.0.0 1.20032E-06
9462 66 G/E 148 rs866946485 0.3247 None gnomAD-2.1.1 4.02E-06
9462 66 G/V 148 None 0.3247 None gnomAD-3.1.2 6.57E-06
9462 66 G/V 148 None 0.3247 None gnomAD-4.0.0 6.57272E-06
9463 67 D/N 149 rs769166539 0.1097 None gnomAD-2.1.1 4.02E-06
9463 67 D/N 149 rs769166539 0.1097 None gnomAD-3.1.2 6.57E-06
9463 67 D/N 149 rs769166539 0.1097 None gnomAD-4.0.0 6.56996E-06
9463 67 D/Y 149 rs769166539 0.1097 None gnomAD-2.1.1 4.02E-06
9463 67 D/Y 149 rs769166539 0.1097 None gnomAD-4.0.0 1.59157E-06
9465 69 G/E 152 rs553570568 0.1369 None gnomAD-2.1.1 4.02E-06
9465 69 G/E 152 rs553570568 0.1369 None gnomAD-4.0.0 1.64237E-05
9465 69 G/R 152 rs747684566 0.1369 None gnomAD-2.1.1 4.02E-06
9465 69 G/R 152 rs747684566 0.1369 None gnomAD-4.0.0 6.84308E-07
9466 70 Q/K 153 None 0.5849 None gnomAD-4.0.0 1.36865E-06
9466 70 Q/P 153 rs1215467586 0.5849 None gnomAD-2.1.1 4.02E-06
9466 70 Q/P 153 rs1215467586 0.5849 None gnomAD-4.0.0 1.36865E-06
9467 71 Y/H 154 rs2076528608 0.0997 None gnomAD-4.0.0 1.36866E-06
9468 72 T/I 155 None 0.1319 None gnomAD-4.0.0 1.59206E-06
9468 72 T/S 155 rs1241585388 0.1319 None gnomAD-3.1.2 1.31E-05
9468 72 T/S 155 rs1241585388 0.1319 None gnomAD-4.0.0 1.31413E-05
9470 74 Y/C 157 rs781236320 0.4199 None gnomAD-2.1.1 4.02E-06
9471 75 A/G 158 None 0.1026 None gnomAD-4.0.0 6.8445E-07
9471 75 A/S 158 rs2076526997 0.1026 None gnomAD-4.0.0 6.84433E-07
9471 75 A/T 158 None 0.1026 None gnomAD-4.0.0 6.84433E-07
9472 76 V/G 159 rs1257120493 0.3485 None gnomAD-2.1.1 1.2E-05
9472 76 V/G 159 rs1257120493 0.3485 None gnomAD-4.0.0 3.4225E-06
9472 76 V/L 159 None 0.3485 None gnomAD-4.0.0 1.20032E-05
9473 77 N/H 161 None 0.1698 None gnomAD-4.0.0 3.18585E-06
9473 77 N/S 161 rs2076526398 0.1698 None gnomAD-4.0.0 1.59291E-06
9475 79 V/E 163 None 0.8908 None gnomAD-4.0.0 1.5934E-06
9475 79 V/G 163 rs1363580617 0.8908 None gnomAD-2.1.1 1.07E-05
9475 79 V/G 163 rs1363580617 0.8908 None gnomAD-3.1.2 6.57E-06
9475 79 V/G 163 rs1363580617 0.8908 None gnomAD-4.0.0 3.84761E-06
9475 79 V/L 163 rs754971247 0.8908 None gnomAD-2.1.1 8.03E-06
9475 79 V/L 163 rs754971247 0.8908 None gnomAD-4.0.0 3.18667E-06
9476 80 G/V 164 None 0.2644 None gnomAD-4.0.0 1.59372E-06
9477 81 K/E 165 None 0.8158 None gnomAD-4.0.0 1.20032E-05
9477 81 K/R 165 None 0.8158 None gnomAD-4.0.0 3.18772E-06
9478 82 D/A 166 rs1553887887 0.2466 None gnomAD-4.0.0 3.60097E-06
9478 82 D/N 166 rs1201727409 0.2466 None gnomAD-3.1.2 6.57E-06
9478 82 D/N 166 rs1201727409 0.2466 None gnomAD-4.0.0 6.57142E-06
9478 82 D/Y 166 None 0.2466 None gnomAD-4.0.0 2.40064E-06
9479 83 S/C 168 None 0.3369 None gnomAD-4.0.0 1.59464E-06
9483 87 Q/R 173 None 0.2382 None gnomAD-4.0.0 2.40064E-06
9484 88 L/P 174 rs1378540444 0.0887 None gnomAD-3.1.2 6.57E-06
9484 88 L/P 174 rs1378540444 0.0887 None gnomAD-4.0.0 2.57691E-06
9486 90 I/T 177 rs746742751 0.2167 None gnomAD-2.1.1 4.04E-06
9486 90 I/T 177 rs746742751 0.2167 None gnomAD-3.1.2 6.57E-06
9486 90 I/T 177 rs746742751 0.2167 None gnomAD-4.0.0 2.59688E-06
9486 90 I/V 177 rs1327402224 0.2167 None gnomAD-2.1.1 7.16E-06
9486 90 I/V 177 rs1327402224 0.2167 None gnomAD-3.1.2 2.63E-05
9486 90 I/V 177 rs1327402224 0.2167 None gnomAD-4.0.0 2.62771E-05