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
L P G P P K S L E V T N I A K D S M T V C W N R P D S D G G S E I I G Y I V E K R D R S G I R W I K C N K R R I T D L R L R V T G L T E D H E Y E F R V S A E N A A G V G E P S P A T V Y Y K A C D P
L P G P P K S L E V T N I A K D S M T V C W N R P D S D G G S E I I G Y I V E K R D R S G I R W I K C N K R R I T D L R L R V T G L T E D H E Y E F R V S A E N A A G V G E P S P A T V Y Y K A C D -

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
26386 1 L/F 1 rs1706115983 0.6259 None gnomAD-4.0.0 1.20032E-06
26388 3 G/E 3 None 0.2477 None gnomAD-4.0.0 3.60097E-06
26388 3 G/R 3 rs763822931 0.2477 None gnomAD-2.1.1 8.05E-06
26388 3 G/R 3 rs763822931 0.2477 None gnomAD-3.1.2 1.32E-05
26388 3 G/R 3 rs763822931 0.2477 None gnomAD-4.0.0 4.95833E-06
26389 4 P/L 4 rs760307077 0.3923 None gnomAD-2.1.1 8.05E-06
26389 4 P/L 4 rs760307077 0.3923 None gnomAD-4.0.0 3.18323E-06
26390 5 P/T 5 rs771933950 0.1120 None gnomAD-2.1.1 2.01E-05
26390 5 P/T 5 rs771933950 0.1120 None gnomAD-3.1.2 6.58E-06
26390 5 P/T 5 rs771933950 0.1120 None gnomAD-4.0.0 1.28157E-05
26392 7 S/T 7 None 0.4863 None gnomAD-4.0.0 6.84271E-07
26393 8 L/F 9 None 0.2459 None gnomAD-4.0.0 1.20032E-06
26393 8 L/S 9 rs745768515 0.2459 None gnomAD-4.0.0 2.7371E-06
26394 9 E/Q 11 rs144788732 0.6917 None gnomAD-3.1.2 6.58E-06
26394 9 E/Q 11 rs144788732 0.6917 None 1000 genomes 1.99681E-04
26394 9 E/Q 11 rs144788732 0.6917 None gnomAD-4.0.0 1.02504E-05
26397 12 N/D 14 rs1349397397 0.6668 None gnomAD-4.0.0 1.20032E-06
26398 13 I/T 15 rs749071678 0.2551 None gnomAD-2.1.1 8.05E-06
26398 13 I/T 15 rs749071678 0.2551 None gnomAD-4.0.0 6.84272E-07
26399 14 A/V 16 None 0.1598 None gnomAD-4.0.0 1.20032E-06
26401 16 D/N 18 None 0.4816 None gnomAD-4.0.0 6.84274E-07
26401 16 D/Y 18 rs1427205421 0.4816 None gnomAD-2.1.1 4.03E-06
26401 16 D/Y 18 rs1427205421 0.4816 None gnomAD-4.0.0 1.36855E-06
26403 18 M/I 20 rs1706091561 0.0739 None gnomAD-4.0.0 6.84282E-07
26403 18 M/K 20 rs1469438235 0.0739 None gnomAD-2.1.1 8.05E-06
26403 18 M/K 20 rs1469438235 0.0739 None gnomAD-4.0.0 4.77483E-06
26404 19 T/I 21 rs786205300 0.1698 None gnomAD-2.1.1 4.03E-06
26404 19 T/I 21 rs786205300 0.1698 None gnomAD-3.1.2 6.58E-06
26404 19 T/I 21 rs786205300 0.1698 None gnomAD-4.0.0 1.8594E-06
26404 19 T/N 21 None 0.1698 None gnomAD-2.1.1 4.03E-06
26404 19 T/N 21 None 0.1698 None gnomAD-4.0.0 1.36857E-06
26405 20 V/I 22 rs769972835 0.1075 None gnomAD-2.1.1 3.22E-05
26405 20 V/I 22 rs769972835 0.1075 None gnomAD-3.1.2 1.97E-05
26405 20 V/I 22 rs769972835 0.1075 None gnomAD-4.0.0 2.23121E-05
26406 21 C/Y 23 rs727505223 0.1941 None gnomAD-4.0.0 1.20032E-06
26407 22 W/R 24 rs1018970512 0.1048 None gnomAD-2.1.1 5.24E-05
26407 22 W/R 24 rs1018970512 0.1048 None gnomAD-3.1.2 1.24882E-04
26407 22 W/R 24 rs1018970512 0.1048 None gnomAD-4.0.0 4.10026E-05
26409 24 R/C 26 rs748258568 0.5570 None gnomAD-2.1.1 2.42E-05
26409 24 R/C 26 rs748258568 0.5570 None gnomAD-3.1.2 6.58E-06
26409 24 R/C 26 rs748258568 0.5570 None gnomAD-4.0.0 1.3636E-05
26409 24 R/H 26 rs72648206 0.5570 None gnomAD-2.1.1 5.68739E-04
26409 24 R/H 26 rs72648206 0.5570 None gnomAD-3.1.2 6.7062E-04
26409 24 R/H 26 rs72648206 0.5570 None gnomAD-4.0.0 8.57715E-04
26410 25 P/R 27 None 0.1853 None gnomAD-4.0.0 1.59173E-06
26410 25 P/S 27 None 0.1853 None gnomAD-4.0.0 1.20032E-06
26411 26 D/E 28 None 0.9398 None gnomAD-4.0.0 6.84293E-07
26411 26 D/G 28 None 0.9398 None gnomAD-4.0.0 6.84292E-07
26411 26 D/N 28 rs2154165912 0.9398 None gnomAD-4.0.0 2.40064E-06
26411 26 D/V 28 rs755457407 0.9398 None gnomAD-2.1.1 4.03E-06
26411 26 D/V 28 rs755457407 0.9398 None gnomAD-4.0.0 6.84292E-07
26412 27 S/G 29 None 0.4815 None gnomAD-4.0.0 1.36859E-06
26412 27 S/N 29 rs752040235 0.4815 None gnomAD-2.1.1 4.03E-06
26412 27 S/N 29 rs752040235 0.4815 None gnomAD-4.0.0 3.42143E-06
26413 28 D/E 30 None 0.3230 None gnomAD-4.0.0 6.8429E-07
26414 29 G/C 31 None 0.4039 None gnomAD-4.0.0 6.84291E-07
26414 29 G/D 31 rs867960496 0.4039 None gnomAD-2.1.1 8.06E-06
26414 29 G/D 31 rs867960496 0.4039 None gnomAD-3.1.2 2.63E-05
26414 29 G/D 31 rs867960496 0.4039 None gnomAD-4.0.0 8.97022E-06
26414 29 G/S 31 rs1349007720 0.4039 None gnomAD-2.1.1 4.03E-06
26414 29 G/S 31 rs1349007720 0.4039 None gnomAD-4.0.0 6.84291E-07
26415 30 G/R 32 rs1706073598 0.6508 None gnomAD-3.1.2 6.58E-06
26415 30 G/R 32 rs1706073598 0.6508 None gnomAD-4.0.0 7.68945E-06
26416 31 S/R 33 None 0.2680 None gnomAD-4.0.0 1.59176E-06
26417 32 E/D 34 rs369019463 0.7968 None gnomAD-2.1.1 2.82E-05
26417 32 E/D 34 rs369019463 0.7968 None gnomAD-3.1.2 3.29E-05
26417 32 E/D 34 rs369019463 0.7968 None gnomAD-4.0.0 8.67713E-05
26417 32 E/Q 34 None 0.7968 None gnomAD-4.0.0 2.05291E-06
26418 33 I/V 35 rs1382272786 0.1739 None gnomAD-2.1.1 4.03E-06
26418 33 I/V 35 rs1382272786 0.1739 None gnomAD-4.0.0 1.3686E-06
26420 35 G/C 37 None 0.1130 None gnomAD-4.0.0 1.59187E-06
26420 35 G/D 37 None 0.1130 None gnomAD-4.0.0 2.40065E-06
26422 37 I/L 39 rs1553590996 0.2438 None gnomAD-4.0.0 2.73732E-06
26422 37 I/T 39 rs3731745 0.2438 None gnomAD-2.1.1 2.57346E-02
26422 37 I/T 39 rs3731745 0.2438 None gnomAD-3.1.2 2.023E-02
26422 37 I/T 39 rs3731745 0.2438 None 1000 genomes 2.23642E-02
26422 37 I/T 39 rs3731745 0.2438 None gnomAD-4.0.0 2.28872E-02
26422 37 I/V 39 rs1553590996 0.2438 None gnomAD-3.1.2 1.31E-05
26422 37 I/V 39 rs1553590996 0.2438 None gnomAD-4.0.0 2.47925E-06
26423 38 V/A 40 rs576203363 0.1032 None gnomAD-2.1.1 8.07E-06
26423 38 V/A 40 rs576203363 0.1032 None gnomAD-3.1.2 6.58E-06
26423 38 V/A 40 rs576203363 0.1032 None 1000 genomes 1.99681E-04
26423 38 V/A 40 rs576203363 0.1032 None gnomAD-4.0.0 4.95833E-06
26423 38 V/G 40 None 0.1032 None gnomAD-4.0.0 6.8434E-07
26423 38 V/L 40 rs1706066147 0.1032 None gnomAD-3.1.2 1.97E-05
26423 38 V/L 40 rs1706066147 0.1032 None gnomAD-4.0.0 1.97259E-05
26424 39 E/A 41 None 0.1653 None gnomAD-4.0.0 1.59206E-06
26424 39 E/K 41 rs1706064410 0.1653 None gnomAD-3.1.2 6.57E-06
26424 39 E/K 41 rs1706064410 0.1653 None gnomAD-4.0.0 6.57471E-06
26425 40 K/E 42 rs1706063163 0.1831 None gnomAD-4.0.0 3.49016E-05
26425 40 K/I 42 rs1359744760 0.1831 None gnomAD-2.1.1 4.03E-06
26425 40 K/I 42 rs1359744760 0.1831 None gnomAD-4.0.0 2.05305E-06
26426 41 R/I 43 None 0.2172 None gnomAD-4.0.0 1.20032E-06
26427 42 D/E 44 rs766994654 0.1763 None gnomAD-2.1.1 3.22E-05
26427 42 D/E 44 rs766994654 0.1763 None gnomAD-3.1.2 1.32E-05
26427 42 D/E 44 rs766994654 0.1763 None gnomAD-4.0.0 6.84363E-07
26427 42 D/H 44 rs1157004476 0.1763 None gnomAD-3.1.2 6.57E-06
26427 42 D/H 44 rs1157004476 0.1763 None gnomAD-4.0.0 6.57462E-06
26427 42 D/N 44 rs1157004476 0.1763 None gnomAD-2.1.1 4.03E-06
26427 42 D/N 44 rs1157004476 0.1763 None gnomAD-4.0.0 1.59205E-06
26429 44 S/N 54 None 0.6437 None gnomAD-4.0.0 2.40064E-06
26429 44 S/R 54 None 0.6437 None gnomAD-4.0.0 1.59205E-06
26430 45 G/A 60 None 0.2691 None gnomAD-4.0.0 1.20033E-06
26431 46 I/F 63 None 1.1568 None gnomAD-4.0.0 2.40067E-06
26431 46 I/N 63 None 1.1568 None gnomAD-4.0.0 1.59199E-06
26432 47 R/Q 64 rs770752765 0.8410 None gnomAD-2.1.1 3.23E-05
26432 47 R/Q 64 rs770752765 0.8410 None gnomAD-3.1.2 1.32E-05
26432 47 R/Q 64 rs770752765 0.8410 None gnomAD-4.0.0 1.54964E-05
26433 48 W/R 65 None 0.2114 None gnomAD-4.0.0 1.59222E-06
26434 49 I/T 66 None 0.5463 None gnomAD-4.0.0 3.18402E-06
26436 51 C/R 68 None 0.2383 None gnomAD-4.0.0 1.20032E-06
26436 51 C/Y 68 None 0.2383 None gnomAD-4.0.0 2.7375E-06
26439 54 R/C 72 rs372968732 0.9190 None gnomAD-2.1.1 2.82E-05
26439 54 R/C 72 rs372968732 0.9190 None gnomAD-3.1.2 2.63E-05
26439 54 R/C 72 rs372968732 0.9190 None gnomAD-4.0.0 2.9755E-05
26439 54 R/H 72 rs187941835 0.9190 None gnomAD-2.1.1 1.61E-05
26439 54 R/H 72 rs187941835 0.9190 None gnomAD-3.1.2 1.32E-05
26439 54 R/H 72 rs187941835 0.9190 None 1000 genomes 1.99681E-04
26439 54 R/H 72 rs187941835 0.9190 None gnomAD-4.0.0 3.40917E-05
26440 55 R/C 75 rs55861600 0.6627 None gnomAD-2.1.1 2.51621E-03
26440 55 R/C 75 rs55861600 0.6627 None gnomAD-3.1.2 7.51355E-03
26440 55 R/C 75 rs55861600 0.6627 None 1000 genomes 6.58946E-03
26440 55 R/C 75 rs55861600 0.6627 None gnomAD-4.0.0 1.471E-03
26440 55 R/H 75 rs56044609 0.6627 None gnomAD-2.1.1 1.76438E-03
26440 55 R/H 75 rs56044609 0.6627 None gnomAD-3.1.2 5.02513E-03
26440 55 R/H 75 rs56044609 0.6627 None 1000 genomes 4.59265E-03
26440 55 R/H 75 rs56044609 0.6627 None gnomAD-4.0.0 1.05004E-03
26440 55 R/L 75 rs56044609 0.6627 None gnomAD-3.1.2 6.58E-06
26440 55 R/L 75 rs56044609 0.6627 None gnomAD-4.0.0 6.5773E-06
26441 56 I/V 77 rs1305096924 0.1812 None gnomAD-3.1.2 6.57E-06
26441 56 I/V 77 rs1305096924 0.1812 None gnomAD-4.0.0 6.57341E-06
26442 57 T/I 83 rs1288656149 0.6375 None gnomAD-2.1.1 4.03E-06
26442 57 T/I 83 rs1288656149 0.6375 None gnomAD-3.1.2 6.58E-06
26442 57 T/I 83 rs1288656149 0.6375 None gnomAD-4.0.0 2.56379E-06
26442 57 T/R 83 None 0.6375 None gnomAD-4.0.0 1.59234E-06
26445 60 R/C 90 rs780658084 0.6755 None gnomAD-2.1.1 8.06E-06
26445 60 R/C 90 rs780658084 0.6755 None gnomAD-4.0.0 7.52881E-06
26445 60 R/H 90 rs764254441 0.6755 None gnomAD-2.1.1 5.01E-05
26445 60 R/H 90 rs764254441 0.6755 None gnomAD-3.1.2 8.55E-05
26445 60 R/H 90 rs764254441 0.6755 None gnomAD-4.0.0 7.19055E-05
26445 60 R/L 90 None 0.6755 None gnomAD-4.0.0 6.84406E-07
26445 60 R/S 90 rs780658084 0.6755 None gnomAD-2.1.1 4.03E-06
26445 60 R/S 90 rs780658084 0.6755 None gnomAD-4.0.0 6.84437E-07
26446 61 L/I 91 None 0.1916 None gnomAD-4.0.0 6.84399E-07
26446 61 L/V 91 None 0.1916 None gnomAD-4.0.0 6.84399E-07
26447 62 R/G 92 None 0.6211 None gnomAD-4.0.0 1.59217E-06
26447 62 R/K 92 None 0.6211 None gnomAD-4.0.0 4.77661E-06
26448 63 V/G 93 rs1553590427 0.1404 None gnomAD-4.0.0 3.42193E-06
26448 63 V/M 93 rs1380054566 0.1404 None gnomAD-2.1.1 1.21E-05
26448 63 V/M 93 rs1380054566 0.1404 None gnomAD-3.1.2 6.57E-06
26448 63 V/M 93 rs1380054566 0.1404 None gnomAD-4.0.0 2.85135E-05
26450 65 G/R 96 rs752326213 0.4602 None gnomAD-2.1.1 4.03E-06
26450 65 G/R 96 rs752326213 0.4602 None gnomAD-3.1.2 6.57E-06
26450 65 G/R 96 rs752326213 0.4602 None gnomAD-4.0.0 5.12723E-06
26452 67 T/K 98 rs375061238 0.3868 None gnomAD-3.1.2 6.58E-06
26452 67 T/K 98 rs375061238 0.3868 None gnomAD-4.0.0 6.57618E-06
26453 68 E/D 99 rs1299909025 0.4584 None gnomAD-2.1.1 4.03E-06
26453 68 E/D 99 rs1299909025 0.4584 None gnomAD-4.0.0 1.59214E-06
26453 68 E/K 99 None 0.4584 None gnomAD-4.0.0 1.59227E-06
26453 68 E/V 99 None 0.4584 None gnomAD-4.0.0 1.59213E-06
26454 69 D/Y 100 None 0.5943 None gnomAD-4.0.0 1.59213E-06
26455 70 H/L 102 rs1706027095 0.3676 None gnomAD-4.0.0 2.05314E-06
26455 70 H/Y 102 None 0.3676 None gnomAD-4.0.0 6.84394E-07
26456 71 E/A 103 rs767070836 0.2683 None gnomAD-2.1.1 1.21E-05
26456 71 E/A 103 rs767070836 0.2683 None gnomAD-4.0.0 1.11453E-05
26456 71 E/K 103 rs1706025148 0.2683 None gnomAD-3.1.2 6.57E-06
26456 71 E/K 103 rs1706025148 0.2683 None gnomAD-4.0.0 1.5225E-05
26458 73 E/D 105 rs1162274016 0.0786 None gnomAD-2.1.1 4.03E-06
26458 73 E/D 105 rs1162274016 0.0786 None gnomAD-4.0.0 1.59216E-06
26459 74 F/C 106 None 0.1203 None gnomAD-4.0.0 2.73749E-06
26460 75 R/G 107 rs1406730761 0.1531 None gnomAD-2.1.1 4.03E-06
26460 75 R/G 107 rs1406730761 0.1531 None gnomAD-4.0.0 1.36876E-06
26460 75 R/K 107 None 0.1531 None gnomAD-4.0.0 2.40064E-06
26461 76 V/A 108 rs1351446352 0.0740 None gnomAD-2.1.1 3.19E-05
26461 76 V/A 108 rs1351446352 0.0740 None gnomAD-3.1.2 6.58E-06
26461 76 V/A 108 rs1351446352 0.0740 None gnomAD-4.0.0 6.57808E-06
26461 76 V/I 108 None 0.0740 None gnomAD-4.0.0 1.20032E-06
26462 77 S/P 109 None 0.1279 None gnomAD-4.0.0 1.20032E-06
26463 78 A/G 110 None 0.0959 None gnomAD-4.0.0 3.42197E-06
26464 79 E/A 111 rs766335027 0.2429 None gnomAD-2.1.1 4.03E-06
26464 79 E/A 111 rs766335027 0.2429 None gnomAD-4.0.0 3.18427E-06
26464 79 E/D 111 None 0.2429 None gnomAD-4.0.0 1.20032E-06
26464 79 E/G 111 rs766335027 0.2429 None gnomAD-2.1.1 8.06E-06
26464 79 E/G 111 rs766335027 0.2429 None gnomAD-4.0.0 4.7764E-06
26466 81 A/G 113 rs762829887 0.6146 None gnomAD-2.1.1 4.03E-06
26466 81 A/G 113 rs762829887 0.6146 None gnomAD-3.1.2 6.57E-06
26466 81 A/G 113 rs762829887 0.6146 None gnomAD-4.0.0 8.67826E-06
26467 82 A/S 114 rs773008593 0.4975 None gnomAD-2.1.1 1.61E-05
26467 82 A/S 114 rs773008593 0.4975 None gnomAD-4.0.0 8.8968E-06
26467 82 A/T 114 None 0.4975 None gnomAD-4.0.0 2.05311E-06
26469 84 V/A 117 None 0.4015 None gnomAD-4.0.0 1.592E-06
26469 84 V/I 117 rs540254651 0.4015 None gnomAD-3.1.2 1.31E-05
26469 84 V/I 117 rs540254651 0.4015 None 1000 genomes 1.99681E-04
26469 84 V/I 117 rs540254651 0.4015 None gnomAD-4.0.0 8.11889E-06
26471 86 E/G 119 None 0.7991 None gnomAD-4.0.0 1.59201E-06
26471 86 E/K 119 None 0.7991 None gnomAD-4.0.0 3.60099E-06
26473 88 S/G 121 None 0.1201 None gnomAD-4.0.0 1.20032E-06
26473 88 S/N 121 None 0.1201 None gnomAD-4.0.0 6.84346E-07
26474 89 P/A 122 rs761511285 0.7285 None gnomAD-2.1.1 8.06E-06
26474 89 P/A 122 rs761511285 0.7285 None gnomAD-4.0.0 1.23184E-05
26475 90 A/G 123 rs1706007740 0.3006 None gnomAD-4.0.0 1.59212E-06
26475 90 A/P 123 rs1245328296 0.3006 None gnomAD-2.1.1 4.03E-06
26475 90 A/P 123 rs1245328296 0.3006 None gnomAD-4.0.0 1.3687E-06
26476 91 T/I 124 rs1457082371 0.1679 None gnomAD-4.0.0 1.59211E-06
26476 91 T/P 124 None 0.1679 None gnomAD-4.0.0 1.20032E-06
26477 92 V/I 125 rs1706005880 0.6213 None gnomAD-4.0.0 4.10615E-06
26478 93 Y/C 126 rs1053235966 0.2634 None gnomAD-4.0.0 1.59203E-06
26478 93 Y/D 126 rs768735283 0.2634 None gnomAD-2.1.1 4.03E-06
26478 93 Y/D 126 rs768735283 0.2634 None gnomAD-4.0.0 1.59209E-06
26479 94 Y/C 127 None 0.2776 None gnomAD-4.0.0 1.59216E-06
26479 94 Y/F 127 rs747150576 0.2776 None gnomAD-2.1.1 4.03E-06
26479 94 Y/F 127 rs747150576 0.2776 None gnomAD-4.0.0 1.59216E-06
26480 95 K/N 129 None 0.3148 None gnomAD-4.0.0 2.40064E-06
26481 96 A/D 130 None 0.0642 None gnomAD-4.0.0 1.59236E-06
26481 96 A/G 130 None 0.0642 None gnomAD-4.0.0 1.59236E-06
26481 96 A/V 130 rs1320046233 0.0642 None gnomAD-2.1.1 8.06E-06
26481 96 A/V 130 rs1320046233 0.0642 None gnomAD-3.1.2 6.58E-06
26481 96 A/V 130 rs1320046233 0.0642 None gnomAD-4.0.0 3.84587E-06