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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 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

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