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

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
35702 1 P/A 1 rs551126367 0.2467 None gnomAD-2.1.1 7.19E-06
35702 1 P/A 1 rs551126367 0.2467 None gnomAD-3.1.2 2.63E-05
35702 1 P/A 1 rs551126367 0.2467 None 1000 genomes 1.99681E-04
35702 1 P/A 1 rs551126367 0.2467 None gnomAD-4.0.0 2.62643E-05
35702 1 P/L 1 rs772957495 0.2467 None gnomAD-2.1.1 1.43818E-04
35702 1 P/L 1 rs772957495 0.2467 None gnomAD-3.1.2 6.57E-05
35702 1 P/L 1 rs772957495 0.2467 None gnomAD-4.0.0 2.03995E-04
35702 1 P/T 1 rs551126367 0.2467 None gnomAD-2.1.1 4.05E-06
35702 1 P/T 1 rs551126367 0.2467 None gnomAD-4.0.0 2.05388E-06
35703 2 A/G 2 rs757500242 0.3667 None gnomAD-2.1.1 1.22E-05
35703 2 A/G 2 rs757500242 0.3667 None gnomAD-4.0.0 2.05389E-06
35703 2 A/S 2 None 0.3667 None gnomAD-4.0.0 1.20032E-06
35703 2 A/V 2 None 0.3667 None gnomAD-4.0.0 4.10778E-06
35704 3 F/S 3 rs1422086577 0.2222 None gnomAD-2.1.1 4.05E-06
35704 3 F/S 3 rs1422086577 0.2222 None gnomAD-4.0.0 4.78074E-06
35705 4 I/N 4 None 0.5577 None gnomAD-4.0.0 1.59346E-06
35707 6 Q/L 7 rs192155013 0.7122 None gnomAD-2.1.1 4.06E-06
35707 6 Q/L 7 rs192155013 0.7122 None gnomAD-3.1.2 6.57E-06
35707 6 Q/L 7 rs192155013 0.7122 None 1000 genomes 1.99681E-04
35707 6 Q/L 7 rs192155013 0.7122 None gnomAD-4.0.0 6.56444E-06
35708 7 P/L 8 rs71423567 0.2253 None gnomAD-2.1.1 4.06E-06
35708 7 P/L 8 rs71423567 0.2253 None gnomAD-3.1.2 6.57E-06
35708 7 P/L 8 rs71423567 0.2253 None gnomAD-4.0.0 4.96083E-06
35708 7 P/R 8 rs71423567 0.2253 None gnomAD-2.1.1 3.18E-05
35708 7 P/R 8 rs71423567 0.2253 None gnomAD-3.1.2 6.57E-06
35708 7 P/R 8 rs71423567 0.2253 None gnomAD-4.0.0 6.57194E-06
35709 8 R/G 9 None 0.6658 None gnomAD-4.0.0 1.59407E-06
35709 8 R/K 9 None 0.6658 None gnomAD-4.0.0 6.84751E-07
35709 8 R/S 9 rs1687614865 0.6658 None gnomAD-4.0.0 6.84731E-07
35710 9 S/C 11 None 0.2878 None gnomAD-4.0.0 6.84788E-07
35710 9 S/F 11 rs1194921895 0.2878 None gnomAD-2.1.1 4.06E-06
35710 9 S/F 11 rs1194921895 0.2878 None gnomAD-4.0.0 1.36958E-06
35710 9 S/P 11 None 0.2878 None gnomAD-4.0.0 6.8473E-07
35711 10 Q/P 13 None 0.6658 None gnomAD-4.0.0 1.20058E-06
35712 11 N/H 14 rs727504949 0.4431 None gnomAD-2.1.1 8.65E-05
35712 11 N/H 14 rs727504949 0.4431 None gnomAD-3.1.2 1.97E-05
35712 11 N/H 14 rs727504949 0.4431 None gnomAD-4.0.0 1.61224E-05
35712 11 N/S 14 None 0.4431 None gnomAD-4.0.0 6.84747E-07
35715 14 E/D 23 rs1687608057 0.9111 None gnomAD-4.0.0 1.59417E-06
35715 14 E/G 23 rs1196336342 0.9111 None gnomAD-2.1.1 4.06E-06
35716 15 G/R 24 None 0.3109 None gnomAD-4.0.0 1.59418E-06
35717 16 Q/L 25 None 0.7404 None gnomAD-4.0.0 1.20032E-06
35719 18 V/A 28 None 0.1279 None gnomAD-4.0.0 1.59318E-06
35720 19 L/I 29 None 0.3315 None gnomAD-4.0.0 6.37355E-06
35720 19 L/P 29 None 0.3315 None gnomAD-4.0.0 6.84552E-07
35720 19 L/R 29 rs768060182 0.3315 None gnomAD-4.0.0 6.84552E-07
35721 20 F/S 30 None 0.0806 None gnomAD-4.0.0 1.59292E-06
35722 21 T/P 31 rs755302099 0.2378 None gnomAD-2.1.1 4.05E-06
35722 21 T/P 31 rs755302099 0.2378 None gnomAD-4.0.0 1.59304E-06
35722 21 T/S 31 rs755302099 0.2378 None gnomAD-3.1.2 6.57E-06
35722 21 T/S 31 rs755302099 0.2378 None gnomAD-4.0.0 6.56978E-06
35723 22 C/G 33 rs1687597849 0.1058 None gnomAD-3.1.2 6.57E-06
35723 22 C/G 33 rs1687597849 0.1058 None gnomAD-4.0.0 3.04468E-06
35724 23 E/D 34 None 0.2729 None gnomAD-4.0.0 6.84635E-07
35725 24 I/V 35 rs1687594887 0.0851 None gnomAD-4.0.0 3.18728E-06
35726 25 S/T 38 None 0.5438 None gnomAD-4.0.0 6.84712E-07
35727 26 G/A 40 None 0.2633 None gnomAD-4.0.0 1.59475E-06
35728 27 E/K 41 rs764891218 0.6941 None gnomAD-2.1.1 1.8E-05
35728 27 E/K 41 rs764891218 0.6941 None gnomAD-3.1.2 1.31E-05
35728 27 E/K 41 rs764891218 0.6941 None gnomAD-4.0.0 1.48877E-05
35729 28 P/S 42 None 0.4583 None gnomAD-4.0.0 1.59631E-06
35731 30 P/T 44 None 0.1742 None gnomAD-4.0.0 1.20032E-06
35732 31 E/D 45 None 0.4419 None gnomAD-4.0.0 1.20032E-06
35732 31 E/K 45 None 0.4419 None gnomAD-4.0.0 6.85714E-07
35733 32 I/M 46 rs776237176 0.1867 None gnomAD-2.1.1 4.07E-06
35733 32 I/V 46 None 0.1867 None gnomAD-4.0.0 2.40064E-06
35734 33 E/K 47 rs374992991 0.3780 None gnomAD-2.1.1 8.16E-06
35734 33 E/K 47 rs374992991 0.3780 None gnomAD-3.1.2 1.31E-05
35734 33 E/K 47 rs374992991 0.3780 None gnomAD-4.0.0 1.11887E-05
35735 34 W/S 48 None 0.1361 None gnomAD-4.0.0 6.86826E-07
35738 37 N/K 51 None 0.7772 None gnomAD-4.0.0 1.60895E-06
35738 37 N/S 51 rs774996138 0.7772 None gnomAD-2.1.1 1.23E-05
35738 37 N/S 51 rs774996138 0.7772 None gnomAD-4.0.0 8.24405E-06
35739 38 N/S 52 rs771983508 1.0121 None gnomAD-4.0.0 1.61948E-06
35739 38 N/T 52 rs771983508 1.0121 None gnomAD-2.1.1 8.26978E-04
35739 38 N/T 52 rs771983508 1.0121 None gnomAD-4.0.0 7.93545E-05
35740 39 L/P 55 None 0.5487 None gnomAD-4.0.0 1.20037E-06
35740 39 L/V 55 rs1176056991 0.5487 None gnomAD-2.1.1 8.26E-06
35740 39 L/V 55 rs1176056991 0.5487 None gnomAD-3.1.2 6.57E-06
35740 39 L/V 55 rs1176056991 0.5487 None gnomAD-4.0.0 1.87044E-06
35741 40 P/A 56 rs1455118621 0.3700 None gnomAD-4.0.0 1.37828E-06
35741 40 P/L 56 rs371210082 0.3700 None gnomAD-2.1.1 4.15E-06
35741 40 P/L 56 rs371210082 0.3700 None gnomAD-4.0.0 5.51422E-06
35741 40 P/R 56 rs371210082 0.3700 None gnomAD-3.1.2 6.57E-06
35741 40 P/R 56 rs371210082 0.3700 None gnomAD-4.0.0 6.57186E-06
35741 40 P/S 56 rs1455118621 0.3700 None gnomAD-2.1.1 4.14E-06
35741 40 P/S 56 rs1455118621 0.3700 None gnomAD-4.0.0 1.37828E-06
35742 41 I/F 58 None 0.2067 None gnomAD-4.0.0 1.60034E-06
35743 42 S/Y 59 None 0.5598 None gnomAD-4.0.0 1.5944E-06
35744 43 I/L 70 rs142336788 0.5519 None gnomAD-3.1.2 6.57E-06
35744 43 I/L 70 rs142336788 0.5519 None gnomAD-4.0.0 6.57065E-06
35744 43 I/T 70 None 0.5519 None gnomAD-4.0.0 6.84708E-07
35744 43 I/V 70 rs142336788 0.5519 None gnomAD-2.1.1 7.91E-05
35744 43 I/V 70 rs142336788 0.5519 None gnomAD-3.1.2 1.90549E-04
35744 43 I/V 70 rs142336788 0.5519 None 1000 genomes 1.99681E-04
35744 43 I/V 70 rs142336788 0.5519 None gnomAD-4.0.0 1.04168E-04
35747 46 N/D 115 None 0.6309 None gnomAD-4.0.0 1.59264E-06
35747 46 N/H 115 None 0.6309 None gnomAD-4.0.0 1.59264E-06
35747 46 N/S 115 rs903505453 0.6309 None gnomAD-3.1.2 1.31E-05
35747 46 N/S 115 rs903505453 0.6309 None gnomAD-4.0.0 3.09948E-06
35747 46 N/Y 115 rs1687478590 0.6309 None gnomAD-3.1.2 6.57E-06
35747 46 N/Y 115 rs1687478590 0.6309 None gnomAD-4.0.0 6.57039E-06
35748 47 V/A 121 None 0.1068 None gnomAD-4.0.0 1.59286E-06
35751 50 S/R 125 None 0.4458 None gnomAD-4.0.0 1.59141E-06
35752 51 R/C 127 rs528535076 0.7121 None gnomAD-2.1.1 2.25162E-04
35752 51 R/C 127 rs528535076 0.7121 None gnomAD-3.1.2 3.94E-05
35752 51 R/C 127 rs528535076 0.7121 None 1000 genomes 1.99681E-04
35752 51 R/C 127 rs528535076 0.7121 None gnomAD-4.0.0 9.91492E-05
35752 51 R/H 127 rs760107623 0.7121 None gnomAD-2.1.1 4.83E-05
35752 51 R/H 127 rs760107623 0.7121 None gnomAD-3.1.2 1.97E-05
35752 51 R/H 127 rs760107623 0.7121 None gnomAD-4.0.0 2.78894E-05
35752 51 R/L 127 None 0.7121 None gnomAD-4.0.0 1.36855E-06
35754 53 R/K 131 rs1687469924 0.9315 None gnomAD-4.0.0 3.18203E-06
35755 54 N/D 134 None 0.4938 None gnomAD-4.0.0 1.59103E-06
35755 54 N/K 134 rs1687468983 0.4938 None gnomAD-3.1.2 6.57E-06
35755 54 N/K 134 rs1687468983 0.4938 None gnomAD-4.0.0 6.56978E-06
35755 54 N/S 134 None 0.4938 None gnomAD-4.0.0 1.20032E-06
35756 55 V/A 135 rs16866378 0.2880 None gnomAD-2.1.1 4.51767E-02
35756 55 V/A 135 rs16866378 0.2880 None gnomAD-3.1.2 5.7505E-02
35756 55 V/A 135 rs16866378 0.2880 None 1000 genomes 9.20527E-02
35756 55 V/A 135 rs16866378 0.2880 None gnomAD-4.0.0 3.26231E-02
35756 55 V/L 135 None 0.2880 None gnomAD-4.0.0 1.20032E-06
35757 56 Y/C 136 rs932225386 0.1366 None gnomAD-3.1.2 6.57E-06
35757 56 Y/C 136 rs932225386 0.1366 None gnomAD-4.0.0 1.85893E-06
35757 56 Y/H 136 rs2154130935 0.1366 None gnomAD-4.0.0 2.40066E-06
35758 57 S/C 137 rs1318791339 0.1531 None gnomAD-2.1.1 4.02E-06
35758 57 S/C 137 rs1318791339 0.1531 None gnomAD-4.0.0 6.36402E-06
35758 57 S/F 137 None 0.1531 None gnomAD-4.0.0 1.591E-06
35759 58 L/F 138 rs1307850517 0.0635 None gnomAD-2.1.1 4.02E-06
35759 58 L/F 138 rs1307850517 0.0635 None gnomAD-4.0.0 1.59099E-06
35762 61 R/L 141 None 0.4706 None gnomAD-4.0.0 6.84167E-07
35762 61 R/Q 141 rs397517800 0.4706 None gnomAD-2.1.1 4.01E-05
35762 61 R/Q 141 rs397517800 0.4706 None gnomAD-3.1.2 3.29E-05
35762 61 R/Q 141 rs397517800 0.4706 None gnomAD-4.0.0 3.03636E-05
35763 62 N/K 143 None 0.6462 None gnomAD-4.0.0 1.591E-06
35764 63 A/S 144 rs879048717 0.3120 None gnomAD-2.1.1 4.01E-06
35764 63 A/S 144 rs879048717 0.3120 None gnomAD-4.0.0 1.71041E-05
35768 67 D/N 149 rs794729571 0.2660 None gnomAD-2.1.1 6.37E-05
35768 67 D/N 149 rs794729571 0.2660 None gnomAD-3.1.2 1.31E-05
35768 67 D/N 149 rs794729571 0.2660 None gnomAD-4.0.0 6.81569E-06
35768 67 D/V 149 None 0.2660 None gnomAD-4.0.0 1.59101E-06
35769 68 S/R 151 None 0.2716 None gnomAD-4.0.0 4.10499E-06
35770 69 G/A 152 None 0.3254 None gnomAD-4.0.0 6.84168E-07
35770 69 G/V 152 None 0.3254 None gnomAD-4.0.0 6.84168E-07
35772 71 Y/H 154 None 0.1347 None gnomAD-4.0.0 2.40065E-06
35773 72 T/K 155 None 0.2233 None gnomAD-4.0.0 3.1821E-06
35774 73 I/V 156 rs774401824 0.0624 None gnomAD-2.1.1 4.01E-05
35774 73 I/V 156 rs774401824 0.0624 None gnomAD-3.1.2 6.57E-06
35774 73 I/V 156 rs774401824 0.0624 None gnomAD-4.0.0 6.19629E-06
35776 75 A/V 158 None 0.0939 None gnomAD-4.0.0 1.36835E-06
35778 77 N/T 161 rs1304770151 0.1246 None gnomAD-2.1.1 3.18E-05
35779 78 F/V 162 None 1.0743 None gnomAD-4.0.0 3.18219E-06
35780 79 R/C 163 rs1687436055 0.8127 None gnomAD-3.1.2 6.57E-06
35780 79 R/C 163 rs1687436055 0.8127 None gnomAD-4.0.0 1.15289E-05
35780 79 R/H 163 rs770904787 0.8127 None gnomAD-2.1.1 1.61E-05
35780 79 R/H 163 rs770904787 0.8127 None gnomAD-4.0.0 8.89442E-06
35781 80 G/S 164 None 0.2080 None gnomAD-4.0.0 1.20032E-06
35783 82 C/R 166 rs1389761673 0.1852 None gnomAD-2.1.1 3.18E-05
35783 82 C/R 166 rs1389761673 0.1852 None gnomAD-4.0.0 1.59112E-06
35783 82 C/Y 166 None 0.1852 None gnomAD-4.0.0 1.20032E-06
35784 83 S/P 168 None 0.4839 None gnomAD-4.0.0 1.59114E-06
35785 84 A/P 169 rs1455841939 0.1660 None gnomAD-2.1.1 4.01E-06
35785 84 A/P 169 rs1455841939 0.1660 None gnomAD-4.0.0 1.59124E-06
35785 84 A/S 169 rs1455841939 0.1660 None gnomAD-2.1.1 4.01E-06
35785 84 A/S 169 rs1455841939 0.1660 None gnomAD-4.0.0 1.59124E-06
35786 85 T/I 171 rs749086389 0.3778 None gnomAD-2.1.1 1.43E-05
35786 85 T/I 171 rs749086389 0.3778 None gnomAD-3.1.2 5.91E-05
35786 85 T/I 171 rs749086389 0.3778 None gnomAD-4.0.0 1.30121E-05
35788 87 S/A 173 rs773306658 0.6166 None gnomAD-2.1.1 4.02E-06
35788 87 S/A 173 rs773306658 0.6166 None gnomAD-4.0.0 1.5914E-06
35789 88 L/S 174 None 0.1570 None gnomAD-4.0.0 1.20032E-06
35790 89 M/L 175 rs1687416004 0.7014 None gnomAD-3.1.2 6.57E-06
35790 89 M/L 175 rs1687416004 0.7014 None gnomAD-4.0.0 6.5716E-06
35790 89 M/R 175 rs1188337689 0.7014 None gnomAD-2.1.1 4.02E-06
35790 89 M/R 175 rs1188337689 0.7014 None gnomAD-3.1.2 6.57E-06
35790 89 M/R 175 rs1188337689 0.7014 None gnomAD-4.0.0 2.56222E-06