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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
30719 1 V/D 1 None 0.5179 None gnomAD-4.0.0 1.62473E-06
30721 3 D/A 3 None 0.4622 None gnomAD-4.0.0 4.80129E-06
30722 4 A/V 4 rs2154148189 0.2523 None gnomAD-4.0.0 6.88776E-07
30723 5 P/R 5 None 0.1189 None gnomAD-4.0.0 6.88537E-07
30723 5 P/S 5 rs758537709 0.1189 None gnomAD-2.1.1 6.18E-05
30723 5 P/S 5 rs758537709 0.1189 None gnomAD-3.1.2 9.2E-05
30723 5 P/S 5 rs758537709 0.1189 TMD
Literature None
30723 5 P/S 5 rs758537709 0.1189 None gnomAD-4.0.0 9.53693E-05
30724 6 G/D 6 None 0.1971 None gnomAD-4.0.0 2.40064E-06
30724 6 G/R 6 rs370928582 0.1971 None gnomAD-2.1.1 1.82E-05
30724 6 G/R 6 rs370928582 0.1971 None gnomAD-3.1.2 1.18321E-04
30724 6 G/R 6 rs370928582 0.1971 None gnomAD-4.0.0 1.55823E-05
30724 6 G/S 6 rs370928582 0.1971 None gnomAD-2.1.1 4.1E-06
30724 6 G/S 6 rs370928582 0.1971 None gnomAD-4.0.0 1.17059E-05
30725 7 I/M 7 None 0.5424 None gnomAD-4.0.0 1.20032E-06
30725 7 I/V 7 rs1279357858 0.5424 None gnomAD-2.1.1 7.24E-06
30725 7 I/V 7 rs1279357858 0.5424 None gnomAD-3.1.2 1.31E-05
30725 7 I/V 7 rs1279357858 0.5424 None gnomAD-4.0.0 5.17689E-06
30726 8 P/A 9 rs72648247 0.1208 None gnomAD-2.1.1 2.44E-05
30726 8 P/A 9 rs72648247 0.1208 None gnomAD-3.1.2 6.57E-06
30726 8 P/A 9 rs72648247 0.1208 None gnomAD-4.0.0 1.05787E-05
30726 8 P/S 9 rs72648247 0.1208 None gnomAD-2.1.1 2.59095E-03
30726 8 P/S 9 rs72648247 0.1208 None gnomAD-3.1.2 1.98501E-03
30726 8 P/S 9 rs72648247 0.1208 None 1000 genomes 1.99681E-03
30726 8 P/S 9 rs72648247 0.1208 None gnomAD-4.0.0 2.66501E-03
30727 9 E/A 11 None 0.7091 None gnomAD-4.0.0 6.87049E-07
30729 11 S/R 13 rs778827102 0.2843 None gnomAD-2.1.1 4.05E-06
30729 11 S/R 13 rs778827102 0.2843 None gnomAD-4.0.0 3.19993E-06
30731 13 I/L 15 rs16866391 0.2589 None gnomAD-2.1.1 1.62E-05
30731 13 I/L 15 rs16866391 0.2589 None gnomAD-4.0.0 3.49651E-05
30731 13 I/V 15 rs16866391 0.2589 None gnomAD-2.1.1 3.52571E-02
30731 13 I/V 15 rs16866391 0.2589 None gnomAD-3.1.2 1.55402E-02
30731 13 I/V 15 rs16866391 0.2589 None 1000 genomes 3.47444E-02
30731 13 I/V 15 rs16866391 0.2589 None gnomAD-4.0.0 1.09846E-02
30733 15 G/A 17 None 0.1083 None gnomAD-4.0.0 1.59669E-06
30733 15 G/S 17 None 0.1083 None gnomAD-4.0.0 1.59669E-06
30735 17 S/N 19 rs1225964281 0.1131 None gnomAD-4.0.0 1.36972E-06
30736 18 I/T 20 None 0.0701 None gnomAD-4.0.0 2.40064E-06
30737 19 T/N 21 None 0.1239 None gnomAD-4.0.0 3.60097E-06
30738 20 L/R 22 None 0.0803 None gnomAD-4.0.0 4.8013E-06
30739 21 T/I 23 None 0.3168 None gnomAD-4.0.0 1.59172E-06
30740 22 W/R 24 None 0.1248 None gnomAD-4.0.0 1.59165E-06
30741 23 A/V 25 rs202090888 0.4280 None gnomAD-2.1.1 3.58E-05
30741 23 A/V 25 rs202090888 0.4280 None gnomAD-3.1.2 3.94E-05
30741 23 A/V 25 rs202090888 0.4280 None gnomAD-4.0.0 5.08192E-05
30742 24 R/K 26 rs1698436310 0.5249 None gnomAD-4.0.0 3.18285E-06
30742 24 R/W 26 rs1698437169 0.5249 None gnomAD-4.0.0 3.18296E-06
30743 25 P/R 27 rs771621337 0.1342 None gnomAD-2.1.1 4.03E-06
30743 25 P/R 27 rs771621337 0.1342 None gnomAD-4.0.0 3.18291E-06
30747 29 G/C 31 rs759160905 0.4066 None gnomAD-2.1.1 8.05E-06
30747 29 G/C 31 rs759160905 0.4066 None gnomAD-4.0.0 6.15793E-06
30747 29 G/S 31 rs759160905 0.4066 None gnomAD-2.1.1 4.03E-06
30747 29 G/S 31 rs759160905 0.4066 None gnomAD-4.0.0 6.84214E-07
30750 32 E/G 34 None 0.7633 None gnomAD-4.0.0 6.84205E-07
30750 32 E/V 34 None 0.7633 None gnomAD-4.0.0 6.84205E-07
30751 33 I/M 35 None 0.1442 None gnomAD-4.0.0 1.59125E-06
30752 34 Q/E 36 rs1466048751 0.5365 None gnomAD-4.0.0 2.05263E-06
30752 34 Q/H 36 rs1485098760 0.5365 None gnomAD-2.1.1 4.02E-06
30752 34 Q/K 36 rs1466048751 0.5365 None gnomAD-4.0.0 6.84211E-07
30754 36 Y/C 38 None 0.1128 None gnomAD-4.0.0 1.20032E-06
30754 36 Y/D 38 rs369857502 0.1128 None gnomAD-4.0.0 2.05259E-06
30754 36 Y/H 38 rs369857502 0.1128 None gnomAD-2.1.1 4.02E-06
30754 36 Y/H 38 rs369857502 0.1128 None gnomAD-4.0.0 6.84198E-07
30757 39 E/Q 41 None 0.1525 None gnomAD-4.0.0 1.20032E-06
30758 40 R/K 42 None 0.2914 None gnomAD-4.0.0 3.42095E-06
30758 40 R/S 42 None 0.2914 None gnomAD-4.0.0 6.84182E-07
30759 41 R/K 43 rs769687279 0.2017 None gnomAD-2.1.1 4.02E-06
30759 41 R/K 43 rs769687279 0.2017 None gnomAD-4.0.0 1.59115E-06
30760 42 E/Q 44 rs936029222 0.3631 None gnomAD-2.1.1 4.02E-06
30760 42 E/Q 44 rs936029222 0.3631 None gnomAD-4.0.0 1.59116E-06
30762 44 K/Q 54 rs747890554 1.0166 None gnomAD-2.1.1 4.02E-06
30762 44 K/Q 54 rs747890554 1.0166 None gnomAD-4.0.0 2.73672E-06
30762 44 K/R 54 None 1.0166 None gnomAD-4.0.0 1.20032E-06
30764 46 T/K 63 rs376537509 0.9695 None gnomAD-2.1.1 1.61E-05
30764 46 T/K 63 rs376537509 0.9695 None gnomAD-3.1.2 1.31E-05
30764 46 T/K 63 rs376537509 0.9695 None gnomAD-4.0.0 1.92099E-05
30764 46 T/S 63 None 0.9695 None gnomAD-4.0.0 1.20032E-06
30765 47 R/G 64 None 0.7647 None gnomAD-4.0.0 1.59105E-06
30765 47 R/K 64 rs373099440 0.7647 None gnomAD-2.1.1 4.01E-06
30765 47 R/K 64 rs373099440 0.7647 None gnomAD-4.0.0 1.36836E-06
30765 47 R/T 64 rs373099440 0.7647 None gnomAD-2.1.1 1.31908E-04
30765 47 R/T 64 rs373099440 0.7647 None gnomAD-3.1.2 5.71624E-04
30765 47 R/T 64 rs373099440 0.7647 None 1000 genomes 1.99681E-04
30765 47 R/T 64 rs373099440 0.7647 None gnomAD-4.0.0 8.92235E-05
30766 48 W/R 65 rs780067852 0.2318 None gnomAD-2.1.1 4.42E-05
30766 48 W/R 65 rs780067852 0.2318 None gnomAD-4.0.0 2.94196E-05
30767 49 V/A 66 rs1698403843 0.4038 None gnomAD-4.0.0 4.77318E-06
30768 50 K/N 67 None 0.4696 None gnomAD-4.0.0 1.20032E-06
30768 50 K/T 67 None 0.4696 None gnomAD-4.0.0 1.36834E-06
30770 52 I/T 69 None 1.0524 None gnomAD-4.0.0 1.20032E-06
30771 53 S/G 70 rs565582571 0.3186 None gnomAD-2.1.1 6.37E-05
30771 53 S/G 70 rs565582571 0.3186 None gnomAD-3.1.2 1.97E-05
30771 53 S/G 70 rs565582571 0.3186 None 1000 genomes 1.99681E-04
30771 53 S/G 70 rs565582571 0.3186 None gnomAD-4.0.0 4.05911E-06
30771 53 S/R 70 None 0.3186 None gnomAD-4.0.0 1.20032E-06
30773 55 R/Q 72 rs776649477 0.8527 None gnomAD-2.1.1 8.03E-06
30773 55 R/Q 72 rs776649477 0.8527 None gnomAD-3.1.2 6.57E-06
30773 55 R/Q 72 rs776649477 0.8527 None gnomAD-4.0.0 6.19659E-06
30774 56 P/A 75 rs1158503839 0.6250 None gnomAD-2.1.1 4.01E-06
30774 56 P/R 75 rs1399114641 0.6250 None gnomAD-2.1.1 4.01E-06
30774 56 P/R 75 rs1399114641 0.6250 None gnomAD-4.0.0 1.59103E-06
30774 56 P/T 75 None 0.6250 None gnomAD-4.0.0 6.8417E-07
30775 57 I/V 77 rs1410441906 0.1150 None gnomAD-2.1.1 4.01E-06
30775 57 I/V 77 rs1410441906 0.1150 None gnomAD-4.0.0 3.42082E-06
30776 58 S/A 83 None 0.5607 None gnomAD-4.0.0 1.59101E-06
30777 59 E/A 88 None 0.7177 None gnomAD-4.0.0 1.20032E-06
30777 59 E/K 88 None 0.7177 None gnomAD-4.0.0 1.20032E-06
30778 60 T/R 89 rs201019681 0.2461 None gnomAD-2.1.1 8.55E-05
30778 60 T/R 89 rs201019681 0.2461 None gnomAD-3.1.2 1.18307E-04
30778 60 T/R 89 rs201019681 0.2461 None gnomAD-4.0.0 2.29277E-04
30779 61 R/T 90 rs1289817129 0.4828 None gnomAD-4.0.0 3.18207E-06
30780 62 F/L 91 rs1698389479 0.1971 None gnomAD-4.0.0 1.36834E-06
30783 65 T/P 94 None 0.5490 None gnomAD-4.0.0 1.20032E-06
30784 66 G/C 96 rs979303656 0.5325 None gnomAD-2.1.1 6.37E-05
30784 66 G/C 96 rs979303656 0.5325 None gnomAD-3.1.2 1.31E-05
30784 66 G/C 96 rs979303656 0.5325 None gnomAD-4.0.0 1.31427E-05
30784 66 G/R 96 rs979303656 0.5325 None gnomAD-2.1.1 1.07E-05
30784 66 G/R 96 rs979303656 0.5325 None gnomAD-3.1.2 3.29E-05
30784 66 G/R 96 rs979303656 0.5325 None gnomAD-4.0.0 4.33758E-06
30786 68 T/R 98 None 0.4894 None gnomAD-4.0.0 1.20032E-06
30788 70 G/D 100 rs754125601 0.3068 None gnomAD-2.1.1 2.81E-05
30788 70 G/D 100 rs754125601 0.3068 None gnomAD-3.1.2 3.94E-05
30788 70 G/D 100 rs754125601 0.3068 None gnomAD-4.0.0 2.17765E-05
30788 70 G/S 100 rs199891245 0.3068 None gnomAD-2.1.1 6.88013E-04
30788 70 G/S 100 rs199891245 0.3068 None gnomAD-3.1.2 4.99415E-04
30788 70 G/S 100 rs199891245 0.3068 None gnomAD-4.0.0 3.66837E-04
30789 71 N/S 102 rs767252340 0.3457 None gnomAD-2.1.1 8.03E-06
30789 71 N/S 102 rs767252340 0.3457 None gnomAD-4.0.0 2.73669E-06
30789 71 N/T 102 rs767252340 0.3457 None gnomAD-2.1.1 4.01E-06
30789 71 N/T 102 rs767252340 0.3457 None gnomAD-4.0.0 8.21008E-06
30790 72 E/K 103 rs371765494 0.2863 None gnomAD-2.1.1 8.03E-06
30790 72 E/K 103 rs371765494 0.2863 None gnomAD-3.1.2 6.57E-06
30790 72 E/K 103 rs371765494 0.2863 None gnomAD-4.0.0 4.33763E-06
30791 73 Y/C 104 None 0.0836 None gnomAD-4.0.0 1.36837E-06
30791 73 Y/H 104 rs760556090 0.0836 None gnomAD-2.1.1 8.03E-06
30791 73 Y/H 104 rs760556090 0.0836 None gnomAD-3.1.2 6.57E-06
30791 73 Y/H 104 rs760556090 0.0836 None gnomAD-4.0.0 6.57255E-06
30792 74 E/G 105 None 0.1777 None gnomAD-4.0.0 1.59113E-06
30792 74 E/K 105 rs759221234 0.1777 None gnomAD-2.1.1 4.02E-06
30793 75 F/L 106 None 0.0897 None gnomAD-4.0.0 1.20032E-06
30794 76 H/R 107 rs773998423 0.1244 None gnomAD-2.1.1 8.03E-06
30794 76 H/R 107 rs773998423 0.1244 None gnomAD-3.1.2 6.57E-06
30794 76 H/R 107 rs773998423 0.1244 None gnomAD-4.0.0 7.43576E-06
30795 77 V/A 108 rs1415270216 0.0580 None gnomAD-2.1.1 4.02E-06
30795 77 V/A 108 rs1415270216 0.0580 None gnomAD-4.0.0 1.36836E-06
30795 77 V/I 108 rs369025866 0.0580 None gnomAD-2.1.1 8.03E-06
30795 77 V/I 108 rs369025866 0.0580 None gnomAD-3.1.2 6.57E-06
30795 77 V/I 108 rs369025866 0.0580 None gnomAD-4.0.0 9.29489E-06
30795 77 V/L 108 rs369025866 0.0580 None gnomAD-3.1.2 6.57E-06
30795 77 V/L 108 rs369025866 0.0580 None gnomAD-4.0.0 1.23932E-06
30796 78 M/I 109 rs1698372447 0.1363 None gnomAD-4.0.0 4.77336E-06
30796 78 M/V 109 rs773266486 0.1363 None gnomAD-2.1.1 4.02E-06
30797 79 A/V 110 rs1428714908 0.0949 None gnomAD-2.1.1 4.02E-06
30798 80 E/Q 111 None 0.2615 None gnomAD-4.0.0 1.59115E-06
30801 83 A/E 114 None 0.4985 None gnomAD-4.0.0 6.84204E-07
30801 83 A/G 114 None 0.4985 None gnomAD-4.0.0 1.36841E-06
30801 83 A/V 114 rs372570504 0.4985 None gnomAD-2.1.1 3.21E-05
30801 83 A/V 114 rs372570504 0.4985 None gnomAD-3.1.2 1.05143E-04
30801 83 A/V 114 rs372570504 0.4985 None gnomAD-4.0.0 2.5407E-05
30802 84 G/E 115 rs1698367521 0.2006 None gnomAD-3.1.2 6.57E-06
30802 84 G/E 115 rs1698367521 0.2006 None gnomAD-4.0.0 6.57237E-06
30803 85 V/A 117 None 0.3984 None gnomAD-4.0.0 1.59123E-06
30805 87 P/S 119 rs1698365968 0.4594 None gnomAD-3.1.2 6.57E-06
30805 87 P/S 119 rs1698365968 0.4594 None gnomAD-4.0.0 6.57289E-06
30807 89 S/N 121 rs1698363944 0.1368 None gnomAD-3.1.2 6.57E-06
30807 89 S/N 121 rs1698363944 0.1368 None gnomAD-4.0.0 6.57056E-06
30807 89 S/R 121 rs748024667 0.1368 None gnomAD-2.1.1 4.02E-06
30807 89 S/T 121 None 0.1368 None gnomAD-4.0.0 6.00162E-06
30808 90 G/D 122 rs1698362464 0.2949 None gnomAD-3.1.2 6.57E-06
30808 90 G/D 122 rs1698362464 0.2949 None gnomAD-4.0.0 6.57246E-06
30809 91 I/T 123 rs976337472 0.3607 None gnomAD-2.1.1 4.02E-06
30809 91 I/T 123 rs976337472 0.3607 None gnomAD-4.0.0 1.59121E-06
30810 92 S/L 124 rs1021262891 0.1262 None gnomAD-3.1.2 6.57E-06
30810 92 S/L 124 rs1021262891 0.1262 None gnomAD-4.0.0 6.08976E-06
30812 94 L/F 126 rs776239659 0.3831 None gnomAD-2.1.1 4.02E-06
30812 94 L/F 126 rs776239659 0.3831 None gnomAD-4.0.0 3.18262E-06
30813 95 I/T 127 rs768897840 0.1053 None gnomAD-2.1.1 2.41E-05
30813 95 I/T 127 rs768897840 0.1053 None gnomAD-3.1.2 6.57E-06
30813 95 I/T 127 rs768897840 0.1053 None gnomAD-4.0.0 2.91268E-05
30814 96 K/T 129 None 0.4922 None gnomAD-4.0.0 3.18253E-06
30815 97 C/R 130 rs1485333840 0.0725 None gnomAD-3.1.2 6.57E-06
30815 97 C/R 130 rs1485333840 0.0725 None gnomAD-4.0.0 6.57402E-06
30815 97 C/Y 130 rs1185347998 0.0725 None gnomAD-2.1.1 4.02E-06
30815 97 C/Y 130 rs1185347998 0.0725 None gnomAD-4.0.0 2.73687E-06
30817 99 E/D 132 rs397517755 0.4080 None gnomAD-2.1.1 3.57E-05
30817 99 E/D 132 rs397517755 0.4080 None gnomAD-3.1.2 4.6E-05
30817 99 E/D 132 rs397517755 0.4080 None gnomAD-4.0.0 7.12671E-05
30817 99 E/K 132 rs529196025 0.4080 None gnomAD-2.1.1 4.02E-06
30817 99 E/K 132 rs529196025 0.4080 None gnomAD-4.0.0 6.84219E-07
30817 99 E/Q 132 rs529196025 0.4080 None gnomAD-2.1.1 3.21E-05
30817 99 E/Q 132 rs529196025 0.4080 None gnomAD-3.1.2 1.97E-05
30817 99 E/Q 132 rs529196025 0.4080 None 1000 genomes 1.99681E-04
30817 99 E/Q 132 rs529196025 0.4080 None gnomAD-4.0.0 1.17737E-05