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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 1.2795 None gnomAD-2.1.1 3.19E-05
9397 1 P/L 1 rs1359908699 1.2795 None gnomAD-3.1.2 6.57E-06
9397 1 P/L 1 rs1359908699 1.2795 None gnomAD-4.0.0 6.5735E-06
9397 1 P/S 1 rs1446166655 1.2795 None gnomAD-2.1.1 3.18E-05
9397 1 P/S 1 rs1446166655 1.2795 None gnomAD-4.0.0 1.593E-06
9398 2 F/C 2 None 0.7156 None gnomAD-4.0.0 6.84471E-07
9398 2 F/I 2 rs1299415103 0.7156 None gnomAD-3.1.2 6.57E-06
9398 2 F/I 2 rs1299415103 0.7156 None gnomAD-4.0.0 2.56384E-06
9398 2 F/Y 2 None 0.7156 None gnomAD-4.0.0 6.84471E-07
9399 3 F/I 3 None 0.1876 None gnomAD-4.0.0 1.20032E-06
9400 4 D/G 4 rs1254441947 0.2559 None gnomAD-2.1.1 4.03E-06
9400 4 D/G 4 rs1254441947 0.2559 None gnomAD-3.1.2 1.31E-05
9400 4 D/G 4 rs1254441947 0.2559 None gnomAD-4.0.0 1.23978E-05
9400 4 D/H 4 None 0.2559 None gnomAD-4.0.0 6.84467E-07
9401 5 I/F 5 None 0.4806 None gnomAD-4.0.0 1.59235E-06
9402 6 R/C 7 rs369553799 0.4557 None gnomAD-2.1.1 3.22E-05
9402 6 R/C 7 rs369553799 0.4557 None gnomAD-3.1.2 2.63E-05
9402 6 R/C 7 rs369553799 0.4557 None gnomAD-4.0.0 2.60337E-05
9402 6 R/G 7 None 0.4557 None gnomAD-4.0.0 6.84397E-07
9402 6 R/H 7 rs773986121 0.4557 None gnomAD-2.1.1 6.08E-05
9402 6 R/H 7 rs773986121 0.4557 None gnomAD-3.1.2 5.26E-05
9402 6 R/H 7 rs773986121 0.4557 None gnomAD-4.0.0 3.40917E-05
9402 6 R/L 7 None 0.4557 None gnomAD-4.0.0 3.42187E-06
9403 7 L/V 8 rs752742472 0.1784 None gnomAD-2.1.1 8.06E-06
9403 7 L/V 8 rs752742472 0.1784 None gnomAD-4.0.0 2.73738E-06
9404 8 A/P 9 None 0.5244 None gnomAD-4.0.0 1.36858E-06
9404 8 A/V 9 rs1238309373 0.5244 None gnomAD-4.0.0 2.05287E-06
9406 10 V/M 13 rs1280284347 0.2169 None gnomAD-2.1.1 4.03E-06
9406 10 V/M 13 rs1280284347 0.2169 None gnomAD-4.0.0 1.59116E-06
9408 12 A/T 16 rs767417518 0.1857 None gnomAD-2.1.1 4.03E-06
9408 12 A/T 16 rs767417518 0.1857 None gnomAD-3.1.2 6.57E-06
9408 12 A/T 16 rs767417518 0.1857 None gnomAD-4.0.0 3.04472E-06
9409 13 V/A 18 None 0.4767 None gnomAD-4.0.0 1.20032E-06
9409 13 V/M 18 rs1239606732 0.4767 None gnomAD-2.1.1 7.15E-06
9409 13 V/M 18 rs1239606732 0.4767 None gnomAD-3.1.2 1.97E-05
9409 13 V/M 18 rs1239606732 0.4767 None gnomAD-4.0.0 8.05552E-06
9411 15 G/E 24 rs563866126 0.3934 None gnomAD-2.1.1 2.14E-05
9411 15 G/E 24 rs563866126 0.3934 None gnomAD-3.1.2 5.91E-05
9411 15 G/E 24 rs563866126 0.3934 None 1000 genomes 1.99681E-04
9411 15 G/E 24 rs563866126 0.3934 None gnomAD-4.0.0 1.05335E-05
9412 16 E/G 25 rs766534072 0.3911 None gnomAD-2.1.1 4.02E-06
9412 16 E/G 25 rs766534072 0.3911 None gnomAD-4.0.0 1.36834E-06
9414 18 A/V 28 None 0.1935 None gnomAD-4.0.0 1.20032E-06
9415 19 D/E 29 rs2076551495 0.5028 None gnomAD-3.1.2 6.57E-06
9415 19 D/E 29 rs2076551495 0.5028 None gnomAD-4.0.0 1.59109E-06
9416 20 F/L 30 None 0.1424 None gnomAD-4.0.0 6.84173E-07
9416 20 F/S 30 None 0.1424 None gnomAD-4.0.0 6.84174E-07
9416 20 F/Y 30 rs879120584 0.1424 None gnomAD-2.1.1 7.14E-06
9416 20 F/Y 30 rs879120584 0.1424 None gnomAD-3.1.2 1.97E-05
9416 20 F/Y 30 rs879120584 0.1424 None gnomAD-4.0.0 6.19678E-06
9417 21 E/D 31 rs773169301 0.3765 None gnomAD-2.1.1 8.04E-06
9417 21 E/D 31 rs773169301 0.3765 None gnomAD-3.1.2 1.31E-05
9417 21 E/D 31 rs773169301 0.3765 None gnomAD-4.0.0 3.09838E-06
9418 22 C/R 33 rs770276972 0.1180 None gnomAD-2.1.1 4.02E-06
9418 22 C/R 33 rs770276972 0.1180 None gnomAD-4.0.0 7.95532E-06
9419 23 H/Q 34 rs762212243 0.2224 None gnomAD-2.1.1 4.02E-06
9419 23 H/Q 34 rs762212243 0.2224 None gnomAD-4.0.0 6.84175E-07
9420 24 V/G 35 None 0.1684 None gnomAD-4.0.0 1.59106E-06
9420 24 V/I 35 rs777186750 0.1684 None gnomAD-2.1.1 2.5E-05
9420 24 V/I 35 rs777186750 0.1684 None gnomAD-3.1.2 1.31E-05
9420 24 V/I 35 rs777186750 0.1684 None gnomAD-4.0.0 3.71812E-06
9421 25 T/M 38 rs375209383 0.4710 None gnomAD-2.1.1 8.56E-05
9421 25 T/M 38 rs375209383 0.4710 None gnomAD-3.1.2 4.6E-05
9421 25 T/M 38 rs375209383 0.4710 None gnomAD-4.0.0 7.18783E-05
9421 25 T/S 38 None 0.4710 None gnomAD-4.0.0 1.20032E-06
9423 27 T/I 41 None 0.8838 None gnomAD-4.0.0 1.20032E-06
9424 28 Q/K 42 rs748778927 0.5123 None gnomAD-2.1.1 7.13E-06
9424 28 Q/K 42 rs748778927 0.5123 None gnomAD-3.1.2 6.57E-06
9424 28 Q/K 42 rs748778927 0.5123 None gnomAD-4.0.0 4.33777E-06
9425 29 P/L 43 rs755720364 0.6588 None gnomAD-2.1.1 8.03E-06
9425 29 P/L 43 rs755720364 0.6588 None gnomAD-3.1.2 6.58E-06
9425 29 P/L 43 rs755720364 0.6588 None gnomAD-4.0.0 4.33788E-06
9425 29 P/R 43 rs755720364 0.6588 None gnomAD-2.1.1 8.03E-06
9425 29 P/R 43 rs755720364 0.6588 None gnomAD-4.0.0 1.36832E-06
9425 29 P/S 43 None 0.6588 None gnomAD-4.0.0 1.59102E-06
9426 30 I/T 44 None 0.2914 None gnomAD-4.0.0 3.4208E-06
9427 31 K/N 45 rs1207669528 0.8266 None gnomAD-3.1.2 6.57E-06
9427 31 K/N 45 rs1207669528 0.8266 None gnomAD-4.0.0 6.84161E-07
9428 32 V/F 46 None 0.3134 None gnomAD-4.0.0 5.47328E-06
9428 32 V/I 46 rs1284963573 0.3134 None gnomAD-2.1.1 8.03E-06
9428 32 V/I 46 rs1284963573 0.3134 None gnomAD-4.0.0 4.78912E-06
9428 32 V/L 46 rs1284963573 0.3134 None gnomAD-2.1.1 3.18E-05
9428 32 V/L 46 rs1284963573 0.3134 None gnomAD-3.1.2 1.31E-05
9428 32 V/L 46 rs1284963573 0.3134 None gnomAD-4.0.0 1.31449E-05
9432 36 K/T 50 None 0.1181 None gnomAD-4.0.0 1.20032E-06
9433 37 D/E 51 rs372608982 0.4316 None gnomAD-2.1.1 4.82E-05
9433 37 D/E 51 rs372608982 0.4316 None gnomAD-3.1.2 3.94E-05
9433 37 D/E 51 rs372608982 0.4316 None gnomAD-4.0.0 2.29276E-05
9433 37 D/G 51 rs1441669143 0.4316 None gnomAD-3.1.2 6.57E-06
9433 37 D/G 51 rs1441669143 0.4316 None gnomAD-4.0.0 6.57091E-06
9433 37 D/H 51 rs781329594 0.4316 None gnomAD-2.1.1 4.02E-06
9433 37 D/H 51 rs781329594 0.4316 None gnomAD-4.0.0 1.59099E-06
9434 38 S/I 52 rs751432055 0.8745 None gnomAD-2.1.1 4.02E-06
9434 38 S/I 52 rs751432055 0.8745 None gnomAD-4.0.0 1.36832E-06
9434 38 S/R 52 None 0.8745 None gnomAD-4.0.0 1.59099E-06
9435 39 R/G 55 rs1355846496 0.7939 None gnomAD-2.1.1 4.02E-06
9435 39 R/G 55 rs1355846496 0.7939 None gnomAD-4.0.0 1.59099E-06
9436 40 E/D 56 rs906433178 0.5871 None gnomAD-3.1.2 1.31E-05
9436 40 E/D 56 rs906433178 0.5871 None gnomAD-4.0.0 1.85895E-06
9436 40 E/Q 56 None 0.5871 None gnomAD-4.0.0 1.20032E-06
9437 41 I/T 58 rs1277389231 0.1619 None gnomAD-2.1.1 4.01E-06
9437 41 I/T 58 rs1277389231 0.1619 None gnomAD-4.0.0 1.59098E-06
9438 42 R/Q 59 rs72648998 0.7005 None gnomAD-2.1.1 4.68935E-02
9438 42 R/Q 59 rs72648998 0.7005 None gnomAD-3.1.2 4.08323E-02
9438 42 R/Q 59 rs72648998 0.7005 None 1000 genomes 2.73562E-02
9438 42 R/Q 59 rs72648998 0.7005 None gnomAD-4.0.0 5.42117E-02
9439 43 S/N 70 None 0.5430 None gnomAD-4.0.0 4.77295E-06
9440 44 G/R 73 rs940069606 0.4055 None gnomAD-4.0.0 1.20032E-06
9441 45 G/A 111 None 0.7087 None gnomAD-4.0.0 1.20033E-06
9441 45 G/R 111 rs397517529 0.7087 None gnomAD-2.1.1 1.61E-05
9441 45 G/R 111 rs397517529 0.7087 None gnomAD-3.1.2 6.58E-06
9441 45 G/R 111 rs397517529 0.7087 None gnomAD-4.0.0 8.05581E-06
9444 48 Q/R 122 None 0.6057 None gnomAD-4.0.0 1.20032E-06
9446 50 S/N 125 rs762605364 0.4243 None gnomAD-4.0.0 2.05249E-06
9446 50 S/T 125 None 0.4243 None gnomAD-4.0.0 6.84163E-07
9447 51 Y/C 127 None 0.4179 None gnomAD-4.0.0 1.591E-06
9447 51 Y/H 127 rs1051050691 0.4179 None gnomAD-2.1.1 4.02E-06
9447 51 Y/H 127 rs1051050691 0.4179 None gnomAD-4.0.0 4.10499E-06
9450 54 N/K 134 None 0.4105 None gnomAD-4.0.0 1.20032E-06
9450 54 N/S 134 None 0.4105 None gnomAD-4.0.0 1.20032E-06
9450 54 N/T 134 rs2076533329 0.4105 None gnomAD-3.1.2 6.57E-06
9450 54 N/T 134 rs2076533329 0.4105 None gnomAD-4.0.0 6.57186E-06
9451 55 S/R 135 rs777096848 0.1583 None gnomAD-2.1.1 4.02E-06
9451 55 S/R 135 rs777096848 0.1583 None gnomAD-4.0.0 6.84188E-07
9452 56 A/P 136 rs527663092 0.0885 None gnomAD-2.1.1 1.61E-05
9452 56 A/P 136 rs527663092 0.0885 None gnomAD-4.0.0 8.89436E-06
9452 56 A/T 136 rs527663092 0.0885 None gnomAD-2.1.1 6.02E-05
9452 56 A/T 136 rs527663092 0.0885 None gnomAD-3.1.2 7.23E-05
9452 56 A/T 136 rs527663092 0.0885 None 1000 genomes 1.99681E-04
9452 56 A/T 136 rs527663092 0.0885 None gnomAD-4.0.0 3.65595E-05
9453 57 H/Q 137 None 0.3662 None gnomAD-4.0.0 6.84184E-07
9456 60 V/A 140 rs1185144865 0.1327 None gnomAD-2.1.1 4.02E-06
9456 60 V/A 140 rs1185144865 0.1327 None gnomAD-4.0.0 1.59117E-06
9456 60 V/F 140 rs772549192 0.1327 None gnomAD-2.1.1 4.02E-06
9456 60 V/F 140 rs772549192 0.1327 None gnomAD-4.0.0 4.80129E-06
9457 61 L/V 141 None 0.5121 None gnomAD-4.0.0 2.40064E-06
9459 63 V/A 144 rs541910545 0.1497 None gnomAD-2.1.1 8.03E-06
9459 63 V/A 144 rs541910545 0.1497 None gnomAD-3.1.2 1.31E-05
9459 63 V/A 144 rs541910545 0.1497 None 1000 genomes 1.99681E-04
9459 63 V/A 144 rs541910545 0.1497 None gnomAD-4.0.0 2.47867E-06
9460 64 D/H 145 None 0.4254 None gnomAD-4.0.0 1.59137E-06
9461 65 K/E 146 None 0.7676 None gnomAD-4.0.0 1.20032E-06
9462 66 G/E 148 rs866946485 0.4178 None gnomAD-2.1.1 4.02E-06
9462 66 G/V 148 None 0.4178 None gnomAD-3.1.2 6.57E-06
9462 66 G/V 148 None 0.4178 None gnomAD-4.0.0 6.57272E-06
9463 67 D/N 149 rs769166539 0.2369 None gnomAD-2.1.1 4.02E-06
9463 67 D/N 149 rs769166539 0.2369 None gnomAD-3.1.2 6.57E-06
9463 67 D/N 149 rs769166539 0.2369 None gnomAD-4.0.0 6.56996E-06
9463 67 D/Y 149 rs769166539 0.2369 None gnomAD-2.1.1 4.02E-06
9463 67 D/Y 149 rs769166539 0.2369 None gnomAD-4.0.0 1.59157E-06
9465 69 G/E 152 rs553570568 0.1524 None gnomAD-2.1.1 4.02E-06
9465 69 G/E 152 rs553570568 0.1524 None gnomAD-4.0.0 1.64237E-05
9465 69 G/R 152 rs747684566 0.1524 None gnomAD-2.1.1 4.02E-06
9465 69 G/R 152 rs747684566 0.1524 None gnomAD-4.0.0 6.84308E-07
9466 70 Q/K 153 None 0.5952 None gnomAD-4.0.0 1.36865E-06
9466 70 Q/P 153 rs1215467586 0.5952 None gnomAD-2.1.1 4.02E-06
9466 70 Q/P 153 rs1215467586 0.5952 None gnomAD-4.0.0 1.36865E-06
9467 71 Y/H 154 rs2076528608 0.1100 None gnomAD-4.0.0 1.36866E-06
9468 72 T/I 155 None 0.1735 None gnomAD-4.0.0 1.59206E-06
9468 72 T/S 155 rs1241585388 0.1735 None gnomAD-3.1.2 1.31E-05
9468 72 T/S 155 rs1241585388 0.1735 None gnomAD-4.0.0 1.31413E-05
9470 74 Y/C 157 rs781236320 0.5149 None gnomAD-2.1.1 4.02E-06
9471 75 A/G 158 None 0.1620 None gnomAD-4.0.0 6.8445E-07
9471 75 A/S 158 rs2076526997 0.1620 None gnomAD-4.0.0 6.84433E-07
9471 75 A/T 158 None 0.1620 None gnomAD-4.0.0 6.84433E-07
9472 76 V/G 159 rs1257120493 0.4382 None gnomAD-2.1.1 1.2E-05
9472 76 V/G 159 rs1257120493 0.4382 None gnomAD-4.0.0 3.4225E-06
9472 76 V/L 159 None 0.4382 None gnomAD-4.0.0 1.20032E-05
9473 77 N/H 161 None 0.2400 None gnomAD-4.0.0 3.18585E-06
9473 77 N/S 161 rs2076526398 0.2400 None gnomAD-4.0.0 1.59291E-06
9475 79 V/E 163 None 0.9402 None gnomAD-4.0.0 1.5934E-06
9475 79 V/G 163 rs1363580617 0.9402 None gnomAD-2.1.1 1.07E-05
9475 79 V/G 163 rs1363580617 0.9402 None gnomAD-3.1.2 6.57E-06
9475 79 V/G 163 rs1363580617 0.9402 None gnomAD-4.0.0 3.84761E-06
9475 79 V/L 163 rs754971247 0.9402 None gnomAD-2.1.1 8.03E-06
9475 79 V/L 163 rs754971247 0.9402 None gnomAD-4.0.0 3.18667E-06
9476 80 G/V 164 None 0.3416 None gnomAD-4.0.0 1.59372E-06
9477 81 K/E 165 None 0.8691 None gnomAD-4.0.0 1.20032E-05
9477 81 K/R 165 None 0.8691 None gnomAD-4.0.0 3.18772E-06
9478 82 D/A 166 rs1553887887 0.3442 None gnomAD-4.0.0 3.60097E-06
9478 82 D/N 166 rs1201727409 0.3442 None gnomAD-3.1.2 6.57E-06
9478 82 D/N 166 rs1201727409 0.3442 None gnomAD-4.0.0 6.57142E-06
9478 82 D/Y 166 None 0.3442 None gnomAD-4.0.0 2.40064E-06
9479 83 S/C 168 None 0.3304 None gnomAD-4.0.0 1.59464E-06
9483 87 Q/R 173 None 0.2377 None gnomAD-4.0.0 2.40064E-06
9484 88 L/P 174 rs1378540444 0.1526 None gnomAD-3.1.2 6.57E-06
9484 88 L/P 174 rs1378540444 0.1526 None gnomAD-4.0.0 2.57691E-06
9486 90 I/T 177 rs746742751 0.2848 None gnomAD-2.1.1 4.04E-06
9486 90 I/T 177 rs746742751 0.2848 None gnomAD-3.1.2 6.57E-06
9486 90 I/T 177 rs746742751 0.2848 None gnomAD-4.0.0 2.59688E-06
9486 90 I/V 177 rs1327402224 0.2848 None gnomAD-2.1.1 7.16E-06
9486 90 I/V 177 rs1327402224 0.2848 None gnomAD-3.1.2 2.63E-05
9486 90 I/V 177 rs1327402224 0.2848 None gnomAD-4.0.0 2.62771E-05