Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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 S F S R Q L R D V Q E T V G L P V V F D C A I S G S E P I S V S W Y K D G K P L K D S P N V Q T S F L D N T A T L N I F K T D R S L A G Q Y S C T A T N P I G S A S S S A R L I L T E G K N P 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 0.1457 None gnomAD-2.1.1 3.19E-05
9397 1 P/L 1 rs1359908699 0.1457 None gnomAD-3.1.2 6.57E-06
9397 1 P/L 1 rs1359908699 0.1457 None gnomAD-4.0.0 6.5735E-06
9397 1 P/S 1 rs1446166655 0.1457 None gnomAD-2.1.1 3.18E-05
9397 1 P/S 1 rs1446166655 0.1457 None gnomAD-4.0.0 1.593E-06
9398 2 F/C 2 None 0.4118 None gnomAD-4.0.0 6.84471E-07
9398 2 F/I 2 rs1299415103 0.4118 None gnomAD-3.1.2 6.57E-06
9398 2 F/I 2 rs1299415103 0.4118 None gnomAD-4.0.0 2.56384E-06
9398 2 F/Y 2 None 0.4118 None gnomAD-4.0.0 6.84471E-07
9399 3 F/I 3 None 0.0907 None gnomAD-4.0.0 1.20032E-06
9400 4 D/G 4 rs1254441947 0.2967 None gnomAD-2.1.1 4.03E-06
9400 4 D/G 4 rs1254441947 0.2967 None gnomAD-3.1.2 1.31E-05
9400 4 D/G 4 rs1254441947 0.2967 None gnomAD-4.0.0 1.23978E-05
9400 4 D/H 4 None 0.2967 None gnomAD-4.0.0 6.84467E-07
9401 5 I/F 5 None 0.4571 None gnomAD-4.0.0 1.59235E-06
9402 6 R/C 7 rs369553799 0.4406 None gnomAD-2.1.1 3.22E-05
9402 6 R/C 7 rs369553799 0.4406 None gnomAD-3.1.2 2.63E-05
9402 6 R/C 7 rs369553799 0.4406 None gnomAD-4.0.0 2.60337E-05
9402 6 R/G 7 None 0.4406 None gnomAD-4.0.0 6.84397E-07
9402 6 R/H 7 rs773986121 0.4406 None gnomAD-2.1.1 6.08E-05
9402 6 R/H 7 rs773986121 0.4406 None gnomAD-3.1.2 5.26E-05
9402 6 R/H 7 rs773986121 0.4406 None gnomAD-4.0.0 3.40917E-05
9402 6 R/L 7 None 0.4406 None gnomAD-4.0.0 3.42187E-06
9403 7 L/V 8 rs752742472 0.1650 None gnomAD-2.1.1 8.06E-06
9403 7 L/V 8 rs752742472 0.1650 None gnomAD-4.0.0 2.73738E-06
9404 8 A/P 9 None 0.5343 None gnomAD-4.0.0 1.36858E-06
9404 8 A/V 9 rs1238309373 0.5343 None gnomAD-4.0.0 2.05287E-06
9406 10 V/M 13 rs1280284347 0.1926 None gnomAD-2.1.1 4.03E-06
9406 10 V/M 13 rs1280284347 0.1926 None gnomAD-4.0.0 1.59116E-06
9408 12 A/T 16 rs767417518 0.1741 None gnomAD-2.1.1 4.03E-06
9408 12 A/T 16 rs767417518 0.1741 None gnomAD-3.1.2 6.57E-06
9408 12 A/T 16 rs767417518 0.1741 None gnomAD-4.0.0 3.04472E-06
9409 13 V/A 18 None 0.4606 None gnomAD-4.0.0 1.20032E-06
9409 13 V/M 18 rs1239606732 0.4606 None gnomAD-2.1.1 7.15E-06
9409 13 V/M 18 rs1239606732 0.4606 None gnomAD-3.1.2 1.97E-05
9409 13 V/M 18 rs1239606732 0.4606 None gnomAD-4.0.0 8.05552E-06
9411 15 G/E 24 rs563866126 0.3769 None gnomAD-2.1.1 2.14E-05
9411 15 G/E 24 rs563866126 0.3769 None gnomAD-3.1.2 5.91E-05
9411 15 G/E 24 rs563866126 0.3769 None 1000 genomes 1.99681E-04
9411 15 G/E 24 rs563866126 0.3769 None gnomAD-4.0.0 1.05335E-05
9412 16 E/G 25 rs766534072 0.5209 None gnomAD-2.1.1 4.02E-06
9412 16 E/G 25 rs766534072 0.5209 None gnomAD-4.0.0 1.36834E-06
9414 18 A/V 28 None 0.1486 None gnomAD-4.0.0 1.20032E-06
9415 19 D/E 29 rs2076551495 0.5004 None gnomAD-3.1.2 6.57E-06
9415 19 D/E 29 rs2076551495 0.5004 None gnomAD-4.0.0 1.59109E-06
9416 20 F/L 30 None 0.1132 None gnomAD-4.0.0 6.84173E-07
9416 20 F/S 30 None 0.1132 None gnomAD-4.0.0 6.84174E-07
9416 20 F/Y 30 rs879120584 0.1132 None gnomAD-2.1.1 7.14E-06
9416 20 F/Y 30 rs879120584 0.1132 None gnomAD-3.1.2 1.97E-05
9416 20 F/Y 30 rs879120584 0.1132 None gnomAD-4.0.0 6.19678E-06
9417 21 E/D 31 rs773169301 0.4609 None gnomAD-2.1.1 8.04E-06
9417 21 E/D 31 rs773169301 0.4609 None gnomAD-3.1.2 1.31E-05
9417 21 E/D 31 rs773169301 0.4609 None gnomAD-4.0.0 3.09838E-06
9418 22 C/R 33 rs770276972 0.0945 None gnomAD-2.1.1 4.02E-06
9418 22 C/R 33 rs770276972 0.0945 None gnomAD-4.0.0 7.95532E-06
9419 23 H/Q 34 rs762212243 0.2015 None gnomAD-2.1.1 4.02E-06
9419 23 H/Q 34 rs762212243 0.2015 None gnomAD-4.0.0 6.84175E-07
9420 24 V/G 35 None 0.0939 None gnomAD-4.0.0 1.59106E-06
9420 24 V/I 35 rs777186750 0.0939 None gnomAD-2.1.1 2.5E-05
9420 24 V/I 35 rs777186750 0.0939 None gnomAD-3.1.2 1.31E-05
9420 24 V/I 35 rs777186750 0.0939 None gnomAD-4.0.0 3.71812E-06
9421 25 T/M 38 rs375209383 0.3162 None gnomAD-2.1.1 8.56E-05
9421 25 T/M 38 rs375209383 0.3162 None gnomAD-3.1.2 4.6E-05
9421 25 T/M 38 rs375209383 0.3162 None gnomAD-4.0.0 7.18783E-05
9421 25 T/S 38 None 0.3162 None gnomAD-4.0.0 1.20032E-06
9423 27 T/I 41 None 0.4632 None gnomAD-4.0.0 1.20032E-06
9424 28 Q/K 42 rs748778927 0.4312 None gnomAD-2.1.1 7.13E-06
9424 28 Q/K 42 rs748778927 0.4312 None gnomAD-3.1.2 6.57E-06
9424 28 Q/K 42 rs748778927 0.4312 None gnomAD-4.0.0 4.33777E-06
9425 29 P/L 43 rs755720364 0.7524 None gnomAD-2.1.1 8.03E-06
9425 29 P/L 43 rs755720364 0.7524 None gnomAD-3.1.2 6.58E-06
9425 29 P/L 43 rs755720364 0.7524 None gnomAD-4.0.0 4.33788E-06
9425 29 P/R 43 rs755720364 0.7524 None gnomAD-2.1.1 8.03E-06
9425 29 P/R 43 rs755720364 0.7524 None gnomAD-4.0.0 1.36832E-06
9425 29 P/S 43 None 0.7524 None gnomAD-4.0.0 1.59102E-06
9426 30 I/T 44 None 0.1413 None gnomAD-4.0.0 3.4208E-06
9427 31 K/N 45 rs1207669528 0.7484 None gnomAD-3.1.2 6.57E-06
9427 31 K/N 45 rs1207669528 0.7484 None gnomAD-4.0.0 6.84161E-07
9428 32 V/F 46 None 0.2442 None gnomAD-4.0.0 5.47328E-06
9428 32 V/I 46 rs1284963573 0.2442 None gnomAD-2.1.1 8.03E-06
9428 32 V/I 46 rs1284963573 0.2442 None gnomAD-4.0.0 4.78912E-06
9428 32 V/L 46 rs1284963573 0.2442 None gnomAD-2.1.1 3.18E-05
9428 32 V/L 46 rs1284963573 0.2442 None gnomAD-3.1.2 1.31E-05
9428 32 V/L 46 rs1284963573 0.2442 None gnomAD-4.0.0 1.31449E-05
9432 36 K/T 50 None 0.1021 None gnomAD-4.0.0 1.20032E-06
9433 37 D/E 51 rs372608982 0.4113 None gnomAD-2.1.1 4.82E-05
9433 37 D/E 51 rs372608982 0.4113 None gnomAD-3.1.2 3.94E-05
9433 37 D/E 51 rs372608982 0.4113 None gnomAD-4.0.0 2.29276E-05
9433 37 D/G 51 rs1441669143 0.4113 None gnomAD-3.1.2 6.57E-06
9433 37 D/G 51 rs1441669143 0.4113 None gnomAD-4.0.0 6.57091E-06
9433 37 D/H 51 rs781329594 0.4113 None gnomAD-2.1.1 4.02E-06
9433 37 D/H 51 rs781329594 0.4113 None gnomAD-4.0.0 1.59099E-06
9434 38 S/I 52 rs751432055 0.8057 None gnomAD-2.1.1 4.02E-06
9434 38 S/I 52 rs751432055 0.8057 None gnomAD-4.0.0 1.36832E-06
9434 38 S/R 52 None 0.8057 None gnomAD-4.0.0 1.59099E-06
9435 39 R/G 55 rs1355846496 0.7809 None gnomAD-2.1.1 4.02E-06
9435 39 R/G 55 rs1355846496 0.7809 None gnomAD-4.0.0 1.59099E-06
9436 40 E/D 56 rs906433178 0.6174 None gnomAD-3.1.2 1.31E-05
9436 40 E/D 56 rs906433178 0.6174 None gnomAD-4.0.0 1.85895E-06
9436 40 E/Q 56 None 0.6174 None gnomAD-4.0.0 1.20032E-06
9437 41 I/T 58 rs1277389231 0.1102 None gnomAD-2.1.1 4.01E-06
9437 41 I/T 58 rs1277389231 0.1102 None gnomAD-4.0.0 1.59098E-06
9438 42 R/Q 59 rs72648998 0.7581 None gnomAD-2.1.1 4.68935E-02
9438 42 R/Q 59 rs72648998 0.7581 None gnomAD-3.1.2 4.08323E-02
9438 42 R/Q 59 rs72648998 0.7581 None 1000 genomes 2.73562E-02
9438 42 R/Q 59 rs72648998 0.7581 None gnomAD-4.0.0 5.42117E-02
9439 43 S/N 70 None 0.4934 None gnomAD-4.0.0 4.77295E-06
9440 44 G/R 73 rs940069606 0.4703 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 0.6302 None gnomAD-4.0.0 1.20032E-06
9446 50 S/N 125 rs762605364 0.4172 None gnomAD-4.0.0 2.05249E-06
9446 50 S/T 125 None 0.4172 None gnomAD-4.0.0 6.84163E-07
9447 51 Y/C 127 None 0.3173 None gnomAD-4.0.0 1.591E-06
9447 51 Y/H 127 rs1051050691 0.3173 None gnomAD-2.1.1 4.02E-06
9447 51 Y/H 127 rs1051050691 0.3173 None gnomAD-4.0.0 4.10499E-06
9450 54 N/K 134 None 0.3426 None gnomAD-4.0.0 1.20032E-06
9450 54 N/S 134 None 0.3426 None gnomAD-4.0.0 1.20032E-06
9450 54 N/T 134 rs2076533329 0.3426 None gnomAD-3.1.2 6.57E-06
9450 54 N/T 134 rs2076533329 0.3426 None gnomAD-4.0.0 6.57186E-06
9451 55 S/R 135 rs777096848 0.1884 None gnomAD-2.1.1 4.02E-06
9451 55 S/R 135 rs777096848 0.1884 None gnomAD-4.0.0 6.84188E-07
9452 56 A/P 136 rs527663092 0.0908 None gnomAD-2.1.1 1.61E-05
9452 56 A/P 136 rs527663092 0.0908 None gnomAD-4.0.0 8.89436E-06
9452 56 A/T 136 rs527663092 0.0908 None gnomAD-2.1.1 6.02E-05
9452 56 A/T 136 rs527663092 0.0908 None gnomAD-3.1.2 7.23E-05
9452 56 A/T 136 rs527663092 0.0908 None 1000 genomes 1.99681E-04
9452 56 A/T 136 rs527663092 0.0908 None gnomAD-4.0.0 3.65595E-05
9453 57 H/Q 137 None 0.3529 None gnomAD-4.0.0 6.84184E-07
9456 60 V/A 140 rs1185144865 0.0990 None gnomAD-2.1.1 4.02E-06
9456 60 V/A 140 rs1185144865 0.0990 None gnomAD-4.0.0 1.59117E-06
9456 60 V/F 140 rs772549192 0.0990 None gnomAD-2.1.1 4.02E-06
9456 60 V/F 140 rs772549192 0.0990 None gnomAD-4.0.0 4.80129E-06
9457 61 L/V 141 None 0.4874 None gnomAD-4.0.0 2.40064E-06
9459 63 V/A 144 rs541910545 0.1139 None gnomAD-2.1.1 8.03E-06
9459 63 V/A 144 rs541910545 0.1139 None gnomAD-3.1.2 1.31E-05
9459 63 V/A 144 rs541910545 0.1139 None 1000 genomes 1.99681E-04
9459 63 V/A 144 rs541910545 0.1139 None gnomAD-4.0.0 2.47867E-06
9460 64 D/H 145 None 0.3421 None gnomAD-4.0.0 1.59137E-06
9461 65 K/E 146 None 0.8918 None gnomAD-4.0.0 1.20032E-06
9462 66 G/E 148 rs866946485 0.3670 None gnomAD-2.1.1 4.02E-06
9462 66 G/V 148 None 0.3670 None gnomAD-3.1.2 6.57E-06
9462 66 G/V 148 None 0.3670 None gnomAD-4.0.0 6.57272E-06
9463 67 D/N 149 rs769166539 0.1316 None gnomAD-2.1.1 4.02E-06
9463 67 D/N 149 rs769166539 0.1316 None gnomAD-3.1.2 6.57E-06
9463 67 D/N 149 rs769166539 0.1316 None gnomAD-4.0.0 6.56996E-06
9463 67 D/Y 149 rs769166539 0.1316 None gnomAD-2.1.1 4.02E-06
9463 67 D/Y 149 rs769166539 0.1316 None gnomAD-4.0.0 1.59157E-06
9465 69 G/E 152 rs553570568 0.1275 None gnomAD-2.1.1 4.02E-06
9465 69 G/E 152 rs553570568 0.1275 None gnomAD-4.0.0 1.64237E-05
9465 69 G/R 152 rs747684566 0.1275 None gnomAD-2.1.1 4.02E-06
9465 69 G/R 152 rs747684566 0.1275 None gnomAD-4.0.0 6.84308E-07
9466 70 Q/K 153 None 0.5465 None gnomAD-4.0.0 1.36865E-06
9466 70 Q/P 153 rs1215467586 0.5465 None gnomAD-2.1.1 4.02E-06
9466 70 Q/P 153 rs1215467586 0.5465 None gnomAD-4.0.0 1.36865E-06
9467 71 Y/H 154 rs2076528608 0.0887 None gnomAD-4.0.0 1.36866E-06
9468 72 T/I 155 None 0.1291 None gnomAD-4.0.0 1.59206E-06
9468 72 T/S 155 rs1241585388 0.1291 None gnomAD-3.1.2 1.31E-05
9468 72 T/S 155 rs1241585388 0.1291 None gnomAD-4.0.0 1.31413E-05
9470 74 Y/C 157 rs781236320 0.4077 None gnomAD-2.1.1 4.02E-06
9471 75 A/G 158 None 0.1063 None gnomAD-4.0.0 6.8445E-07
9471 75 A/S 158 rs2076526997 0.1063 None gnomAD-4.0.0 6.84433E-07
9471 75 A/T 158 None 0.1063 None gnomAD-4.0.0 6.84433E-07
9472 76 V/G 159 rs1257120493 0.3641 None gnomAD-2.1.1 1.2E-05
9472 76 V/G 159 rs1257120493 0.3641 None gnomAD-4.0.0 3.4225E-06
9472 76 V/L 159 None 0.3641 None gnomAD-4.0.0 1.20032E-05
9473 77 N/H 161 None 0.1279 None gnomAD-4.0.0 3.18585E-06
9473 77 N/S 161 rs2076526398 0.1279 None gnomAD-4.0.0 1.59291E-06
9475 79 V/E 163 None 0.4043 None gnomAD-4.0.0 1.5934E-06
9475 79 V/G 163 rs1363580617 0.4043 None gnomAD-2.1.1 1.07E-05
9475 79 V/G 163 rs1363580617 0.4043 None gnomAD-3.1.2 6.57E-06
9475 79 V/G 163 rs1363580617 0.4043 None gnomAD-4.0.0 3.84761E-06
9475 79 V/L 163 rs754971247 0.4043 None gnomAD-2.1.1 8.03E-06
9475 79 V/L 163 rs754971247 0.4043 None gnomAD-4.0.0 3.18667E-06
9476 80 G/V 164 None 0.1916 None gnomAD-4.0.0 1.59372E-06
9477 81 K/E 165 None 0.8435 None gnomAD-4.0.0 1.20032E-05
9477 81 K/R 165 None 0.8435 None gnomAD-4.0.0 3.18772E-06
9478 82 D/A 166 rs1553887887 0.2243 None gnomAD-4.0.0 3.60097E-06
9478 82 D/N 166 rs1201727409 0.2243 None gnomAD-3.1.2 6.57E-06
9478 82 D/N 166 rs1201727409 0.2243 None gnomAD-4.0.0 6.57142E-06
9478 82 D/Y 166 None 0.2243 None gnomAD-4.0.0 2.40064E-06
9479 83 S/C 168 None 0.2957 None gnomAD-4.0.0 1.59464E-06
9483 87 Q/R 173 None 0.2271 None gnomAD-4.0.0 2.40064E-06
9484 88 L/P 174 rs1378540444 0.0896 None gnomAD-3.1.2 6.57E-06
9484 88 L/P 174 rs1378540444 0.0896 None gnomAD-4.0.0 2.57691E-06
9486 90 I/T 177 rs746742751 0.2262 None gnomAD-2.1.1 4.04E-06
9486 90 I/T 177 rs746742751 0.2262 None gnomAD-3.1.2 6.57E-06
9486 90 I/T 177 rs746742751 0.2262 None gnomAD-4.0.0 2.59688E-06
9486 90 I/V 177 rs1327402224 0.2262 None gnomAD-2.1.1 7.16E-06
9486 90 I/V 177 rs1327402224 0.2262 None gnomAD-3.1.2 2.63E-05
9486 90 I/V 177 rs1327402224 0.2262 None gnomAD-4.0.0 2.62771E-05