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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 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 0.0985 None gnomAD-2.1.1 3.19E-05
9397 1 P/L 1 rs1359908699 0.0985 None gnomAD-3.1.2 6.57E-06
9397 1 P/L 1 rs1359908699 0.0985 None gnomAD-4.0.0 6.5735E-06
9397 1 P/S 1 rs1446166655 0.0985 None gnomAD-2.1.1 3.18E-05
9397 1 P/S 1 rs1446166655 0.0985 None gnomAD-4.0.0 1.593E-06
9398 2 F/C 2 None 0.4051 None gnomAD-4.0.0 6.84471E-07
9398 2 F/I 2 rs1299415103 0.4051 None gnomAD-3.1.2 6.57E-06
9398 2 F/I 2 rs1299415103 0.4051 None gnomAD-4.0.0 2.56384E-06
9398 2 F/Y 2 None 0.4051 None gnomAD-4.0.0 6.84471E-07
9399 3 F/I 3 None 0.0808 None gnomAD-4.0.0 1.20032E-06
9400 4 D/G 4 rs1254441947 0.2560 None gnomAD-2.1.1 4.03E-06
9400 4 D/G 4 rs1254441947 0.2560 None gnomAD-3.1.2 1.31E-05
9400 4 D/G 4 rs1254441947 0.2560 None gnomAD-4.0.0 1.23978E-05
9400 4 D/H 4 None 0.2560 None gnomAD-4.0.0 6.84467E-07
9401 5 I/F 5 None 0.3887 None gnomAD-4.0.0 1.59235E-06
9402 6 R/C 7 rs369553799 0.5607 None gnomAD-2.1.1 3.22E-05
9402 6 R/C 7 rs369553799 0.5607 None gnomAD-3.1.2 2.63E-05
9402 6 R/C 7 rs369553799 0.5607 None gnomAD-4.0.0 2.60337E-05
9402 6 R/G 7 None 0.5607 None gnomAD-4.0.0 6.84397E-07
9402 6 R/H 7 rs773986121 0.5607 None gnomAD-2.1.1 6.08E-05
9402 6 R/H 7 rs773986121 0.5607 None gnomAD-3.1.2 5.26E-05
9402 6 R/H 7 rs773986121 0.5607 None gnomAD-4.0.0 3.40917E-05
9402 6 R/L 7 None 0.5607 None gnomAD-4.0.0 3.42187E-06
9403 7 L/V 8 rs752742472 0.1501 None gnomAD-2.1.1 8.06E-06
9403 7 L/V 8 rs752742472 0.1501 None gnomAD-4.0.0 2.73738E-06
9404 8 A/P 9 None 0.5385 None gnomAD-4.0.0 1.36858E-06
9404 8 A/V 9 rs1238309373 0.5385 None gnomAD-4.0.0 2.05287E-06
9406 10 V/M 13 rs1280284347 0.2111 None gnomAD-2.1.1 4.03E-06
9406 10 V/M 13 rs1280284347 0.2111 None gnomAD-4.0.0 1.59116E-06
9408 12 A/T 16 rs767417518 0.1663 None gnomAD-2.1.1 4.03E-06
9408 12 A/T 16 rs767417518 0.1663 None gnomAD-3.1.2 6.57E-06
9408 12 A/T 16 rs767417518 0.1663 None gnomAD-4.0.0 3.04472E-06
9409 13 V/A 18 None 0.4614 None gnomAD-4.0.0 1.20032E-06
9409 13 V/M 18 rs1239606732 0.4614 None gnomAD-2.1.1 7.15E-06
9409 13 V/M 18 rs1239606732 0.4614 None gnomAD-3.1.2 1.97E-05
9409 13 V/M 18 rs1239606732 0.4614 None gnomAD-4.0.0 8.05552E-06
9411 15 G/E 24 rs563866126 0.3814 None gnomAD-2.1.1 2.14E-05
9411 15 G/E 24 rs563866126 0.3814 None gnomAD-3.1.2 5.91E-05
9411 15 G/E 24 rs563866126 0.3814 None 1000 genomes 1.99681E-04
9411 15 G/E 24 rs563866126 0.3814 None gnomAD-4.0.0 1.05335E-05
9412 16 E/G 25 rs766534072 0.5305 None gnomAD-2.1.1 4.02E-06
9412 16 E/G 25 rs766534072 0.5305 None gnomAD-4.0.0 1.36834E-06
9414 18 A/V 28 None 0.1398 None gnomAD-4.0.0 1.20032E-06
9415 19 D/E 29 rs2076551495 0.4993 None gnomAD-3.1.2 6.57E-06
9415 19 D/E 29 rs2076551495 0.4993 None gnomAD-4.0.0 1.59109E-06
9416 20 F/L 30 None 0.1050 None gnomAD-4.0.0 6.84173E-07
9416 20 F/S 30 None 0.1050 None gnomAD-4.0.0 6.84174E-07
9416 20 F/Y 30 rs879120584 0.1050 None gnomAD-2.1.1 7.14E-06
9416 20 F/Y 30 rs879120584 0.1050 None gnomAD-3.1.2 1.97E-05
9416 20 F/Y 30 rs879120584 0.1050 None gnomAD-4.0.0 6.19678E-06
9417 21 E/D 31 rs773169301 0.3773 None gnomAD-2.1.1 8.04E-06
9417 21 E/D 31 rs773169301 0.3773 None gnomAD-3.1.2 1.31E-05
9417 21 E/D 31 rs773169301 0.3773 None gnomAD-4.0.0 3.09838E-06
9418 22 C/R 33 rs770276972 0.0758 None gnomAD-2.1.1 4.02E-06
9418 22 C/R 33 rs770276972 0.0758 None gnomAD-4.0.0 7.95532E-06
9419 23 H/Q 34 rs762212243 0.1588 None gnomAD-2.1.1 4.02E-06
9419 23 H/Q 34 rs762212243 0.1588 None gnomAD-4.0.0 6.84175E-07
9420 24 V/G 35 None 0.0737 None gnomAD-4.0.0 1.59106E-06
9420 24 V/I 35 rs777186750 0.0737 None gnomAD-2.1.1 2.5E-05
9420 24 V/I 35 rs777186750 0.0737 None gnomAD-3.1.2 1.31E-05
9420 24 V/I 35 rs777186750 0.0737 None gnomAD-4.0.0 3.71812E-06
9421 25 T/M 38 rs375209383 0.2710 None gnomAD-2.1.1 8.56E-05
9421 25 T/M 38 rs375209383 0.2710 None gnomAD-3.1.2 4.6E-05
9421 25 T/M 38 rs375209383 0.2710 None gnomAD-4.0.0 7.18783E-05
9421 25 T/S 38 None 0.2710 None gnomAD-4.0.0 1.20032E-06
9423 27 T/I 41 None 0.3553 None gnomAD-4.0.0 1.20032E-06
9424 28 Q/K 42 rs748778927 0.3951 None gnomAD-2.1.1 7.13E-06
9424 28 Q/K 42 rs748778927 0.3951 None gnomAD-3.1.2 6.57E-06
9424 28 Q/K 42 rs748778927 0.3951 None gnomAD-4.0.0 4.33777E-06
9425 29 P/L 43 rs755720364 0.7573 None gnomAD-2.1.1 8.03E-06
9425 29 P/L 43 rs755720364 0.7573 None gnomAD-3.1.2 6.58E-06
9425 29 P/L 43 rs755720364 0.7573 None gnomAD-4.0.0 4.33788E-06
9425 29 P/R 43 rs755720364 0.7573 None gnomAD-2.1.1 8.03E-06
9425 29 P/R 43 rs755720364 0.7573 None gnomAD-4.0.0 1.36832E-06
9425 29 P/S 43 None 0.7573 None gnomAD-4.0.0 1.59102E-06
9426 30 I/T 44 None 0.1110 None gnomAD-4.0.0 3.4208E-06
9427 31 K/N 45 rs1207669528 0.7806 None gnomAD-3.1.2 6.57E-06
9427 31 K/N 45 rs1207669528 0.7806 None gnomAD-4.0.0 6.84161E-07
9428 32 V/F 46 None 0.2249 None gnomAD-4.0.0 5.47328E-06
9428 32 V/I 46 rs1284963573 0.2249 None gnomAD-2.1.1 8.03E-06
9428 32 V/I 46 rs1284963573 0.2249 None gnomAD-4.0.0 4.78912E-06
9428 32 V/L 46 rs1284963573 0.2249 None gnomAD-2.1.1 3.18E-05
9428 32 V/L 46 rs1284963573 0.2249 None gnomAD-3.1.2 1.31E-05
9428 32 V/L 46 rs1284963573 0.2249 None gnomAD-4.0.0 1.31449E-05
9432 36 K/T 50 None 0.1586 None gnomAD-4.0.0 1.20032E-06
9433 37 D/E 51 rs372608982 0.4638 None gnomAD-2.1.1 4.82E-05
9433 37 D/E 51 rs372608982 0.4638 None gnomAD-3.1.2 3.94E-05
9433 37 D/E 51 rs372608982 0.4638 None gnomAD-4.0.0 2.29276E-05
9433 37 D/G 51 rs1441669143 0.4638 None gnomAD-3.1.2 6.57E-06
9433 37 D/G 51 rs1441669143 0.4638 None gnomAD-4.0.0 6.57091E-06
9433 37 D/H 51 rs781329594 0.4638 None gnomAD-2.1.1 4.02E-06
9433 37 D/H 51 rs781329594 0.4638 None gnomAD-4.0.0 1.59099E-06
9434 38 S/I 52 rs751432055 0.7596 None gnomAD-2.1.1 4.02E-06
9434 38 S/I 52 rs751432055 0.7596 None gnomAD-4.0.0 1.36832E-06
9434 38 S/R 52 None 0.7596 None gnomAD-4.0.0 1.59099E-06
9435 39 R/G 55 rs1355846496 0.8087 None gnomAD-2.1.1 4.02E-06
9435 39 R/G 55 rs1355846496 0.8087 None gnomAD-4.0.0 1.59099E-06
9436 40 E/D 56 rs906433178 0.6641 None gnomAD-3.1.2 1.31E-05
9436 40 E/D 56 rs906433178 0.6641 None gnomAD-4.0.0 1.85895E-06
9436 40 E/Q 56 None 0.6641 None gnomAD-4.0.0 1.20032E-06
9437 41 I/T 58 rs1277389231 0.1114 None gnomAD-2.1.1 4.01E-06
9437 41 I/T 58 rs1277389231 0.1114 None gnomAD-4.0.0 1.59098E-06
9438 42 R/Q 59 rs72648998 0.8047 None gnomAD-2.1.1 4.68935E-02
9438 42 R/Q 59 rs72648998 0.8047 None gnomAD-3.1.2 4.08323E-02
9438 42 R/Q 59 rs72648998 0.8047 None 1000 genomes 2.73562E-02
9438 42 R/Q 59 rs72648998 0.8047 None gnomAD-4.0.0 5.42117E-02
9439 43 S/N 70 None 0.5312 None gnomAD-4.0.0 4.77295E-06
9440 44 G/R 73 rs940069606 0.5118 None gnomAD-4.0.0 1.20032E-06
9441 45 G/A 111 None 0.7384 None gnomAD-4.0.0 1.20033E-06
9441 45 G/R 111 rs397517529 0.7384 None gnomAD-2.1.1 1.61E-05
9441 45 G/R 111 rs397517529 0.7384 None gnomAD-3.1.2 6.58E-06
9441 45 G/R 111 rs397517529 0.7384 None gnomAD-4.0.0 8.05581E-06
9444 48 Q/R 122 None 0.5856 None gnomAD-4.0.0 1.20032E-06
9446 50 S/N 125 rs762605364 0.3913 None gnomAD-4.0.0 2.05249E-06
9446 50 S/T 125 None 0.3913 None gnomAD-4.0.0 6.84163E-07
9447 51 Y/C 127 None 0.2819 None gnomAD-4.0.0 1.591E-06
9447 51 Y/H 127 rs1051050691 0.2819 None gnomAD-2.1.1 4.02E-06
9447 51 Y/H 127 rs1051050691 0.2819 None gnomAD-4.0.0 4.10499E-06
9450 54 N/K 134 None 0.2862 None gnomAD-4.0.0 1.20032E-06
9450 54 N/S 134 None 0.2862 None gnomAD-4.0.0 1.20032E-06
9450 54 N/T 134 rs2076533329 0.2862 None gnomAD-3.1.2 6.57E-06
9450 54 N/T 134 rs2076533329 0.2862 None gnomAD-4.0.0 6.57186E-06
9451 55 S/R 135 rs777096848 0.1605 None gnomAD-2.1.1 4.02E-06
9451 55 S/R 135 rs777096848 0.1605 None gnomAD-4.0.0 6.84188E-07
9452 56 A/P 136 rs527663092 0.0767 None gnomAD-2.1.1 1.61E-05
9452 56 A/P 136 rs527663092 0.0767 None gnomAD-4.0.0 8.89436E-06
9452 56 A/T 136 rs527663092 0.0767 None gnomAD-2.1.1 6.02E-05
9452 56 A/T 136 rs527663092 0.0767 None gnomAD-3.1.2 7.23E-05
9452 56 A/T 136 rs527663092 0.0767 None 1000 genomes 1.99681E-04
9452 56 A/T 136 rs527663092 0.0767 None gnomAD-4.0.0 3.65595E-05
9453 57 H/Q 137 None 0.2992 None gnomAD-4.0.0 6.84184E-07
9456 60 V/A 140 rs1185144865 0.0975 None gnomAD-2.1.1 4.02E-06
9456 60 V/A 140 rs1185144865 0.0975 None gnomAD-4.0.0 1.59117E-06
9456 60 V/F 140 rs772549192 0.0975 None gnomAD-2.1.1 4.02E-06
9456 60 V/F 140 rs772549192 0.0975 None gnomAD-4.0.0 4.80129E-06
9457 61 L/V 141 None 0.4096 None gnomAD-4.0.0 2.40064E-06
9459 63 V/A 144 rs541910545 0.1137 None gnomAD-2.1.1 8.03E-06
9459 63 V/A 144 rs541910545 0.1137 None gnomAD-3.1.2 1.31E-05
9459 63 V/A 144 rs541910545 0.1137 None 1000 genomes 1.99681E-04
9459 63 V/A 144 rs541910545 0.1137 None gnomAD-4.0.0 2.47867E-06
9460 64 D/H 145 None 0.3323 None gnomAD-4.0.0 1.59137E-06
9461 65 K/E 146 None 0.8844 None gnomAD-4.0.0 1.20032E-06
9462 66 G/E 148 rs866946485 0.3707 None gnomAD-2.1.1 4.02E-06
9462 66 G/V 148 None 0.3707 None gnomAD-3.1.2 6.57E-06
9462 66 G/V 148 None 0.3707 None gnomAD-4.0.0 6.57272E-06
9463 67 D/N 149 rs769166539 0.1572 None gnomAD-2.1.1 4.02E-06
9463 67 D/N 149 rs769166539 0.1572 None gnomAD-3.1.2 6.57E-06
9463 67 D/N 149 rs769166539 0.1572 None gnomAD-4.0.0 6.56996E-06
9463 67 D/Y 149 rs769166539 0.1572 None gnomAD-2.1.1 4.02E-06
9463 67 D/Y 149 rs769166539 0.1572 None gnomAD-4.0.0 1.59157E-06
9465 69 G/E 152 rs553570568 0.1511 None gnomAD-2.1.1 4.02E-06
9465 69 G/E 152 rs553570568 0.1511 None gnomAD-4.0.0 1.64237E-05
9465 69 G/R 152 rs747684566 0.1511 None gnomAD-2.1.1 4.02E-06
9465 69 G/R 152 rs747684566 0.1511 None gnomAD-4.0.0 6.84308E-07
9466 70 Q/K 153 None 0.5224 None gnomAD-4.0.0 1.36865E-06
9466 70 Q/P 153 rs1215467586 0.5224 None gnomAD-2.1.1 4.02E-06
9466 70 Q/P 153 rs1215467586 0.5224 None gnomAD-4.0.0 1.36865E-06
9467 71 Y/H 154 rs2076528608 0.0901 None gnomAD-4.0.0 1.36866E-06
9468 72 T/I 155 None 0.1347 None gnomAD-4.0.0 1.59206E-06
9468 72 T/S 155 rs1241585388 0.1347 None gnomAD-3.1.2 1.31E-05
9468 72 T/S 155 rs1241585388 0.1347 None gnomAD-4.0.0 1.31413E-05
9470 74 Y/C 157 rs781236320 0.4142 None gnomAD-2.1.1 4.02E-06
9471 75 A/G 158 None 0.0822 None gnomAD-4.0.0 6.8445E-07
9471 75 A/S 158 rs2076526997 0.0822 None gnomAD-4.0.0 6.84433E-07
9471 75 A/T 158 None 0.0822 None gnomAD-4.0.0 6.84433E-07
9472 76 V/G 159 rs1257120493 0.3468 None gnomAD-2.1.1 1.2E-05
9472 76 V/G 159 rs1257120493 0.3468 None gnomAD-4.0.0 3.4225E-06
9472 76 V/L 159 None 0.3468 None gnomAD-4.0.0 1.20032E-05
9473 77 N/H 161 None 0.0966 None gnomAD-4.0.0 3.18585E-06
9473 77 N/S 161 rs2076526398 0.0966 None gnomAD-4.0.0 1.59291E-06
9475 79 V/E 163 None 0.4259 None gnomAD-4.0.0 1.5934E-06
9475 79 V/G 163 rs1363580617 0.4259 None gnomAD-2.1.1 1.07E-05
9475 79 V/G 163 rs1363580617 0.4259 None gnomAD-3.1.2 6.57E-06
9475 79 V/G 163 rs1363580617 0.4259 None gnomAD-4.0.0 3.84761E-06
9475 79 V/L 163 rs754971247 0.4259 None gnomAD-2.1.1 8.03E-06
9475 79 V/L 163 rs754971247 0.4259 None gnomAD-4.0.0 3.18667E-06
9476 80 G/V 164 None 0.1859 None gnomAD-4.0.0 1.59372E-06
9477 81 K/E 165 None 0.8564 None gnomAD-4.0.0 1.20032E-05
9477 81 K/R 165 None 0.8564 None gnomAD-4.0.0 3.18772E-06
9478 82 D/A 166 rs1553887887 0.2291 None gnomAD-4.0.0 3.60097E-06
9478 82 D/N 166 rs1201727409 0.2291 None gnomAD-3.1.2 6.57E-06
9478 82 D/N 166 rs1201727409 0.2291 None gnomAD-4.0.0 6.57142E-06
9478 82 D/Y 166 None 0.2291 None gnomAD-4.0.0 2.40064E-06
9479 83 S/C 168 None 0.2914 None gnomAD-4.0.0 1.59464E-06
9483 87 Q/R 173 None 0.2420 None gnomAD-4.0.0 2.40064E-06
9484 88 L/P 174 rs1378540444 0.1055 None gnomAD-3.1.2 6.57E-06
9484 88 L/P 174 rs1378540444 0.1055 None gnomAD-4.0.0 2.57691E-06
9486 90 I/T 177 rs746742751 0.2395 None gnomAD-2.1.1 4.04E-06
9486 90 I/T 177 rs746742751 0.2395 None gnomAD-3.1.2 6.57E-06
9486 90 I/T 177 rs746742751 0.2395 None gnomAD-4.0.0 2.59688E-06
9486 90 I/V 177 rs1327402224 0.2395 None gnomAD-2.1.1 7.16E-06
9486 90 I/V 177 rs1327402224 0.2395 None gnomAD-3.1.2 2.63E-05
9486 90 I/V 177 rs1327402224 0.2395 None gnomAD-4.0.0 2.62771E-05