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

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
26683 1 T/A 1 rs1447655466 0.1818 None gnomAD-2.1.1 4.02E-06
26683 1 T/A 1 rs1447655466 0.1818 None gnomAD-4.0.0 5.47412E-06
26683 1 T/P 1 None 0.1818 None gnomAD-4.0.0 6.84265E-07
26684 2 P/A 2 rs1705731534 0.0952 None gnomAD-4.0.0 2.05278E-06
26685 3 G/E 3 rs773930240 0.1553 None gnomAD-2.1.1 4.02E-06
26685 3 G/E 3 rs773930240 0.1553 None gnomAD-4.0.0 1.20032E-06
26686 4 P/L 4 rs867306848 0.3489 None gnomAD-2.1.1 4.02E-06
26686 4 P/L 4 rs867306848 0.3489 None gnomAD-3.1.2 6.58E-06
26686 4 P/L 4 rs867306848 0.3489 None gnomAD-4.0.0 6.57549E-06
26687 5 P/Q 5 None 0.1068 None gnomAD-4.0.0 1.36855E-06
26687 5 P/S 5 None 0.1068 None gnomAD-4.0.0 1.20032E-06
26689 7 N/D 7 rs1289700659 0.6120 None gnomAD-2.1.1 3.18E-05
26689 7 N/D 7 rs1289700659 0.6120 None gnomAD-3.1.2 6.57E-06
26689 7 N/D 7 rs1289700659 0.6120 None gnomAD-4.0.0 6.57237E-06
26691 9 A/T 11 None 0.3094 None gnomAD-4.0.0 1.20032E-06
26693 11 K/E 13 None 0.5649 None gnomAD-4.0.0 1.59171E-06
26693 11 K/R 13 rs544750835 0.5649 None gnomAD-2.1.1 4.02E-06
26693 11 K/R 13 rs544750835 0.5649 None gnomAD-3.1.2 6.57E-06
26693 11 K/R 13 rs544750835 0.5649 None 1000 genomes 1.99681E-04
26693 11 K/R 13 rs544750835 0.5649 None gnomAD-4.0.0 6.5678E-06
26695 13 V/L 15 rs772729384 0.2572 None gnomAD-2.1.1 2.82E-05
26695 13 V/L 15 rs772729384 0.2572 None gnomAD-3.1.2 3.94E-05
26695 13 V/L 15 rs772729384 0.2572 None gnomAD-4.0.0 1.9833E-05
26696 14 R/K 16 rs769866606 0.4959 None gnomAD-2.1.1 4.03E-06
26696 14 R/K 16 rs769866606 0.4959 None gnomAD-4.0.0 1.36865E-06
26696 14 R/S 16 None 0.4959 None gnomAD-4.0.0 1.59188E-06
26698 16 D/V 18 rs368085497 0.4407 None gnomAD-2.1.1 8.05E-06
26698 16 D/V 18 rs368085497 0.4407 None gnomAD-4.0.0 1.36866E-05
26699 17 S/P 19 rs1444605407 0.1248 None gnomAD-2.1.1 4.03E-06
26699 17 S/P 19 rs1444605407 0.1248 None gnomAD-4.0.0 3.1838E-06
26701 19 F/L 21 rs575784937 0.2659 None gnomAD-2.1.1 3.22E-05
26701 19 F/L 21 rs575784937 0.2659 None gnomAD-3.1.2 6.57E-06
26701 19 F/L 21 rs575784937 0.2659 None 1000 genomes 1.99681E-04
26701 19 F/L 21 rs575784937 0.2659 None gnomAD-4.0.0 1.40948E-05
26701 19 F/S 21 rs954218807 0.2659 None gnomAD-3.1.2 6.57E-06
26701 19 F/S 21 rs954218807 0.2659 None gnomAD-4.0.0 6.57324E-06
26702 20 L/V 22 rs746800300 0.1009 None gnomAD-2.1.1 4.03E-06
26702 20 L/V 22 rs746800300 0.1009 None gnomAD-4.0.0 3.18377E-06
26703 21 V/L 23 rs1288435749 0.2399 None gnomAD-2.1.1 4.03E-06
26703 21 V/L 23 rs1288435749 0.2399 None gnomAD-4.0.0 4.77584E-06
26704 22 W/L 24 rs780184497 0.0927 None gnomAD-2.1.1 4.03E-06
26704 22 W/L 24 rs780184497 0.0927 None gnomAD-4.0.0 1.59186E-06
26705 23 E/D 25 rs558830502 0.3768 None gnomAD-2.1.1 4.29102E-04
26705 23 E/D 25 rs558830502 0.3768 None gnomAD-3.1.2 1.77529E-04
26705 23 E/D 25 rs558830502 0.3768 None 1000 genomes 5.99042E-04
26705 23 E/D 25 rs558830502 0.3768 None gnomAD-4.0.0 1.3263E-04
26705 23 E/K 25 rs758610676 0.3768 None gnomAD-2.1.1 4.03E-06
26705 23 E/K 25 rs758610676 0.3768 None gnomAD-4.0.0 2.7373E-06
26707 25 P/L 27 None 0.1472 None gnomAD-4.0.0 1.59183E-06
26707 25 P/T 27 None 0.1472 None gnomAD-4.0.0 1.59184E-06
26708 26 I/M 28 rs886043518 0.8637 None gnomAD-2.1.1 4.03E-06
26708 26 I/M 28 rs886043518 0.8637 None gnomAD-4.0.0 3.18369E-06
26709 27 I/T 29 rs757763969 0.3459 None gnomAD-2.1.1 4.03E-06
26709 27 I/T 29 rs757763969 0.3459 None gnomAD-4.0.0 1.5055E-05
26710 28 D/G 30 None 0.2802 None gnomAD-4.0.0 1.5918E-06
26711 29 G/R 31 rs2154165266 0.0931 None gnomAD-4.0.0 3.60097E-06
26714 32 K/N 34 None 0.8545 None gnomAD-4.0.0 1.20033E-06
26715 33 V/F 35 rs1705694653 0.1996 None gnomAD-3.1.2 6.58E-06
26715 33 V/F 35 rs1705694653 0.1996 None gnomAD-4.0.0 2.56306E-06
26716 34 K/E 36 rs902372912 0.4217 None gnomAD-4.0.0 9.57999E-06
26717 35 N/S 37 rs538799672 0.2629 None gnomAD-3.1.2 6.57E-06
26717 35 N/S 37 rs538799672 0.2629 None 1000 genomes 1.99681E-04
26717 35 N/S 37 rs538799672 0.2629 None gnomAD-4.0.0 2.56246E-06
26718 36 Y/C 38 rs1705690461 0.1050 None gnomAD-3.1.2 6.57E-06
26718 36 Y/C 38 rs1705690461 0.1050 None gnomAD-4.0.0 6.57281E-06
26719 37 V/A 39 None 0.1724 None gnomAD-4.0.0 5.47426E-06
26720 38 I/M 40 rs376363284 0.0666 None gnomAD-2.1.1 4.29E-05
26720 38 I/M 40 rs376363284 0.0666 None gnomAD-3.1.2 1.11779E-04
26720 38 I/M 40 rs376363284 0.0666 None gnomAD-4.0.0 9.11071E-05
26720 38 I/T 40 rs879183549 0.0666 None gnomAD-4.0.0 1.59164E-06
26721 39 D/E 41 None 0.1279 None gnomAD-4.0.0 6.84275E-07
26722 40 K/Q 42 None 0.1930 None gnomAD-4.0.0 1.20033E-06
26723 41 R/C 43 rs1412497882 0.1688 None gnomAD-2.1.1 8.05E-06
26723 41 R/C 43 rs1412497882 0.1688 None gnomAD-3.1.2 6.58E-06
26723 41 R/C 43 rs1412497882 0.1688 None gnomAD-4.0.0 1.36352E-05
26723 41 R/H 43 rs371615296 0.1688 None gnomAD-2.1.1 2.14E-05
26723 41 R/H 43 rs371615296 0.1688 None gnomAD-3.1.2 3.94E-05
26723 41 R/H 43 rs371615296 0.1688 None gnomAD-4.0.0 1.6114E-05
26723 41 R/L 43 None 0.1688 None gnomAD-4.0.0 6.84275E-07
26724 42 E/K 44 rs367812761 0.2603 None gnomAD-3.1.2 1.31E-05
26724 42 E/K 44 rs367812761 0.2603 None gnomAD-4.0.0 3.84409E-06
26725 43 S/L 50 rs772603198 0.3845 None gnomAD-2.1.1 4.03E-06
26725 43 S/L 50 rs772603198 0.3845 None gnomAD-4.0.0 1.59166E-06
26725 43 S/P 50 None 0.3845 None gnomAD-4.0.0 2.05284E-06
26726 44 T/A 54 rs1258866379 0.7714 None gnomAD-2.1.1 4.03E-06
26726 44 T/A 54 rs1258866379 0.7714 None gnomAD-4.0.0 1.36856E-06
26726 44 T/I 54 None 0.7714 None gnomAD-4.0.0 1.20032E-06
26726 44 T/P 54 None 0.7714 None gnomAD-4.0.0 6.84279E-07
26727 45 R/S 60 rs769497982 0.5424 None gnomAD-2.1.1 3.57E-05
26727 45 R/S 60 rs769497982 0.5424 None gnomAD-3.1.2 2.63E-05
26727 45 R/S 60 rs769497982 0.5424 None gnomAD-4.0.0 3.58777E-05
26728 46 K/E 63 None 1.0589 None gnomAD-4.0.0 1.5916E-06
26729 47 A/P 64 rs1252013447 0.5690 None gnomAD-3.1.2 6.57E-06
26729 47 A/P 64 rs1252013447 0.5690 None gnomAD-4.0.0 1.85928E-06
26729 47 A/V 64 rs747650124 0.5690 None gnomAD-2.1.1 1.61E-05
26729 47 A/V 64 rs747650124 0.5690 None gnomAD-3.1.2 2.63E-05
26729 47 A/V 64 rs747650124 0.5690 None gnomAD-4.0.0 1.79742E-05
26730 48 Y/F 65 None 0.2132 None gnomAD-4.0.0 1.5916E-06
26730 48 Y/H 65 rs768686591 0.2132 None gnomAD-4.0.0 1.59161E-06
26731 49 A/D 66 rs1410996977 0.3725 None gnomAD-3.1.2 6.58E-06
26731 49 A/D 66 rs1410996977 0.3725 None gnomAD-4.0.0 6.57644E-06
26731 49 A/P 66 rs1451227084 0.3725 None gnomAD-2.1.1 4.02E-06
26731 49 A/T 66 None 0.3725 None gnomAD-4.0.0 1.59163E-06
26733 51 V/E 68 rs746813986 0.2579 None gnomAD-2.1.1 1.61E-05
26733 51 V/E 68 rs746813986 0.2579 None gnomAD-4.0.0 2.05283E-06
26733 51 V/M 68 rs755876442 0.2579 None gnomAD-2.1.1 4.02E-06
26733 51 V/M 68 rs755876442 0.2579 None gnomAD-4.0.0 1.5054E-05
26735 53 S/G 70 None 0.4330 None gnomAD-4.0.0 6.84271E-07
26737 55 C/S 77 rs566764105 0.1009 None gnomAD-2.1.1 2.5E-05
26737 55 C/S 77 rs566764105 0.1009 None gnomAD-3.1.2 1.97E-05
26737 55 C/S 77 rs566764105 0.1009 None 1000 genomes 1.99681E-04
26737 55 C/S 77 rs566764105 0.1009 None gnomAD-4.0.0 1.73524E-05
26741 59 S/G 90 rs750048032 0.1974 None gnomAD-2.1.1 8.04E-06
26741 59 S/G 90 rs750048032 0.1974 None gnomAD-3.1.2 6.57E-06
26741 59 S/G 90 rs750048032 0.1974 None gnomAD-4.0.0 1.54935E-05
26741 59 S/N 90 None 0.1974 None gnomAD-4.0.0 1.20033E-06
26743 61 K/T 92 rs368263400 0.3183 None gnomAD-2.1.1 8.04E-05
26743 61 K/T 92 rs368263400 0.3183 None gnomAD-3.1.2 1.97E-05
26743 61 K/T 92 rs368263400 0.3183 None gnomAD-4.0.0 2.7269E-05
26744 62 V/A 93 None 0.1092 None gnomAD-4.0.0 1.20032E-06
26745 63 E/Q 94 None 0.4657 None gnomAD-4.0.0 6.36649E-06
26746 64 N/H 96 None 0.8751 None gnomAD-4.0.0 3.60097E-06
26746 64 N/K 96 rs1299776307 0.8751 None gnomAD-4.0.0 1.59162E-06
26747 65 L/I 97 rs779100100 0.1200 None gnomAD-2.1.1 4.02E-06
26747 65 L/I 97 rs779100100 0.1200 None gnomAD-4.0.0 3.18327E-06
26748 66 T/A 98 None 0.5705 None gnomAD-4.0.0 1.59159E-06
26748 66 T/R 98 None 0.5705 None gnomAD-4.0.0 1.59161E-06
26749 67 E/K 99 None 0.5842 None gnomAD-4.0.0 1.36854E-06
26751 69 A/D 102 rs912122514 0.1706 None gnomAD-2.1.1 4.02E-06
26751 69 A/D 102 rs912122514 0.1706 None gnomAD-4.0.0 2.05281E-06
26751 69 A/T 102 rs1559345993 0.1706 None gnomAD-4.0.0 1.59158E-06
26751 69 A/V 102 rs912122514 0.1706 None gnomAD-2.1.1 8.04E-06
26751 69 A/V 102 rs912122514 0.1706 None gnomAD-4.0.0 6.84271E-07
26752 70 I/V 103 rs376046847 0.3690 None gnomAD-3.1.2 1.31E-05
26752 70 I/V 103 rs376046847 0.3690 None gnomAD-4.0.0 3.04501E-06
26753 71 Y/S 104 rs1321131877 0.0962 None gnomAD-2.1.1 4.02E-06
26753 71 Y/S 104 rs1321131877 0.0962 None gnomAD-4.0.0 6.36628E-06
26755 73 F/L 106 rs200181804 0.1256 None gnomAD-2.1.1 1.60642E-04
26755 73 F/L 106 rs200181804 0.1256 None gnomAD-3.1.2 2.95784E-04
26755 73 F/L 106 rs200181804 0.1256 None 1000 genomes 3.99361E-04
26755 73 F/L 106 rs200181804 0.1256 None gnomAD-4.0.0 2.9498E-04
26755 73 F/S 106 None 0.1256 None gnomAD-4.0.0 1.59159E-06
26756 74 R/T 107 rs1417881535 0.1936 None gnomAD-2.1.1 4.02E-06
26756 74 R/T 107 rs1417881535 0.1936 None gnomAD-4.0.0 3.18317E-06
26757 75 V/A 108 rs1705638495 0.0786 None gnomAD-4.0.0 1.20032E-06
26757 75 V/D 108 None 0.0786 None gnomAD-4.0.0 2.40064E-06
26757 75 V/L 108 rs1170675568 0.0786 None gnomAD-2.1.1 8.04E-06
26757 75 V/L 108 rs1170675568 0.0786 None gnomAD-4.0.0 2.73706E-06
26758 76 M/I 109 rs1705634558 0.1031 None gnomAD-4.0.0 1.59159E-06
26758 76 M/R 109 None 0.1031 None gnomAD-4.0.0 1.59158E-06
26758 76 M/T 109 None 0.1031 None gnomAD-4.0.0 7.95788E-06
26758 76 M/V 109 None 0.1031 None gnomAD-4.0.0 3.42133E-06
26760 78 E/D 111 rs778292712 0.2852 None gnomAD-2.1.1 1.61E-05
26760 78 E/D 111 rs778292712 0.2852 None gnomAD-4.0.0 5.47418E-06
26761 79 N/T 112 rs1187490566 0.0896 None gnomAD-2.1.1 4.02E-06
26761 79 N/T 112 rs1187490566 0.0896 None gnomAD-4.0.0 1.59161E-06
26762 80 E/K 113 None 0.4037 None gnomAD-4.0.0 1.59164E-06
26764 82 G/A 115 None 0.2051 None gnomAD-4.0.0 6.84271E-07
26764 82 G/R 115 rs727505213 0.2051 None gnomAD-2.1.1 8.04E-06
26764 82 G/R 115 rs727505213 0.2051 None gnomAD-3.1.2 6.57E-05
26764 82 G/R 115 rs727505213 0.2051 None gnomAD-4.0.0 1.61123E-05
26765 83 V/G 117 rs1469008305 0.4174 None gnomAD-2.1.1 4.02E-06
26765 83 V/G 117 rs1469008305 0.4174 None gnomAD-4.0.0 1.5916E-06
26766 84 G/A 118 rs753017013 0.1448 None gnomAD-2.1.1 1.21E-05
26766 84 G/A 118 rs753017013 0.1448 None gnomAD-4.0.0 6.84276E-07
26767 85 V/I 119 rs1559345492 0.3237 None gnomAD-2.1.1 3.19E-05
26767 85 V/I 119 rs1559345492 0.3237 None gnomAD-3.1.2 6.57E-06
26767 85 V/I 119 rs1559345492 0.3237 None gnomAD-4.0.0 1.8593E-06
26767 85 V/L 119 None 0.3237 None gnomAD-4.0.0 6.84277E-07
26769 87 V/A 121 None 0.2053 None gnomAD-4.0.0 1.36854E-06
26769 87 V/L 121 None 0.2053 None gnomAD-4.0.0 6.84273E-07
26769 87 V/M 121 rs745315690 0.2053 None gnomAD-3.1.2 6.57E-06
26769 87 V/M 121 rs745315690 0.2053 None gnomAD-4.0.0 1.2395E-06
26770 88 E/D 122 None 0.2833 None gnomAD-4.0.0 5.47416E-06
26771 89 T/A 123 None 0.1956 None gnomAD-4.0.0 1.20032E-06
26771 89 T/I 123 rs567184856 0.1956 None gnomAD-2.1.1 4.02E-06
26771 89 T/I 123 rs567184856 0.1956 None gnomAD-3.1.2 6.58E-06
26771 89 T/I 123 rs567184856 0.1956 None 1000 genomes 1.99681E-04
26771 89 T/I 123 rs567184856 0.1956 None gnomAD-4.0.0 2.56247E-06
26772 90 V/A 124 None 0.9175 None gnomAD-4.0.0 3.18318E-06
26772 90 V/I 124 rs750148761 0.9175 None gnomAD-2.1.1 8.05E-06
26772 90 V/I 124 rs750148761 0.9175 None gnomAD-4.0.0 6.15847E-06
26773 91 D/E 125 rs1036715959 0.8103 None gnomAD-4.0.0 6.84267E-07
26773 91 D/N 125 None 0.8103 None gnomAD-4.0.0 6.84268E-07
26773 91 D/Y 125 None 0.8103 None gnomAD-4.0.0 6.84268E-07
26774 92 A/V 126 rs1272733739 0.2968 None gnomAD-2.1.1 4.02E-06
26774 92 A/V 126 rs1272733739 0.2968 None gnomAD-4.0.0 6.36643E-06
26775 93 V/M 127 rs370589806 0.2289 None gnomAD-2.1.1 8.05E-06
26775 93 V/M 127 rs370589806 0.2289 None gnomAD-3.1.2 3.95E-05
26775 93 V/M 127 rs370589806 0.2289 None gnomAD-4.0.0 8.67686E-06
26777 95 A/G 130 None 0.0871 None gnomAD-4.0.0 1.20032E-06
26777 95 A/T 130 None 0.0871 None gnomAD-4.0.0 1.36854E-06
26777 95 A/V 130 rs1477186864 0.0871 None gnomAD-2.1.1 3.19E-05
26777 95 A/V 130 rs1477186864 0.0871 None gnomAD-3.1.2 6.58E-06
26777 95 A/V 130 rs1477186864 0.0871 None gnomAD-4.0.0 6.57505E-06
26778 96 A/D 131 rs1463558062 0.2884 None gnomAD-2.1.1 4.02E-06
26778 96 A/D 131 rs1463558062 0.2884 None gnomAD-4.0.0 4.10564E-06
26779 97 E/D 132 rs760599182 0.4129 None gnomAD-2.1.1 4.03E-06
26779 97 E/D 132 rs760599182 0.4129 None gnomAD-4.0.0 6.36647E-06