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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 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

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
30719 1 V/D 1 None 0.4986 None gnomAD-4.0.0 1.62473E-06
30721 3 D/A 3 None 0.4152 None gnomAD-4.0.0 4.80129E-06
30722 4 A/V 4 rs2154148189 0.2551 None gnomAD-4.0.0 6.88776E-07
30723 5 P/R 5 None 0.1263 None gnomAD-4.0.0 6.88537E-07
30723 5 P/S 5 rs758537709 0.1263 None gnomAD-2.1.1 6.18E-05
30723 5 P/S 5 rs758537709 0.1263 None gnomAD-3.1.2 9.2E-05
30723 5 P/S 5 rs758537709 0.1263 TMD
Literature None
30723 5 P/S 5 rs758537709 0.1263 None gnomAD-4.0.0 9.53693E-05
30724 6 G/D 6 None 0.2095 None gnomAD-4.0.0 2.40064E-06
30724 6 G/R 6 rs370928582 0.2095 None gnomAD-2.1.1 1.82E-05
30724 6 G/R 6 rs370928582 0.2095 None gnomAD-3.1.2 1.18321E-04
30724 6 G/R 6 rs370928582 0.2095 None gnomAD-4.0.0 1.55823E-05
30724 6 G/S 6 rs370928582 0.2095 None gnomAD-2.1.1 4.1E-06
30724 6 G/S 6 rs370928582 0.2095 None gnomAD-4.0.0 1.17059E-05
30725 7 I/M 7 None 0.5070 None gnomAD-4.0.0 1.20032E-06
30725 7 I/V 7 rs1279357858 0.5070 None gnomAD-2.1.1 7.24E-06
30725 7 I/V 7 rs1279357858 0.5070 None gnomAD-3.1.2 1.31E-05
30725 7 I/V 7 rs1279357858 0.5070 None gnomAD-4.0.0 5.17689E-06
30726 8 P/A 9 rs72648247 0.1247 None gnomAD-2.1.1 2.44E-05
30726 8 P/A 9 rs72648247 0.1247 None gnomAD-3.1.2 6.57E-06
30726 8 P/A 9 rs72648247 0.1247 None gnomAD-4.0.0 1.05787E-05
30726 8 P/S 9 rs72648247 0.1247 None gnomAD-2.1.1 2.59095E-03
30726 8 P/S 9 rs72648247 0.1247 None gnomAD-3.1.2 1.98501E-03
30726 8 P/S 9 rs72648247 0.1247 None 1000 genomes 1.99681E-03
30726 8 P/S 9 rs72648247 0.1247 None gnomAD-4.0.0 2.66501E-03
30727 9 E/A 11 None 0.4024 None gnomAD-4.0.0 6.87049E-07
30729 11 S/R 13 rs778827102 0.2982 None gnomAD-2.1.1 4.05E-06
30729 11 S/R 13 rs778827102 0.2982 None gnomAD-4.0.0 3.19993E-06
30731 13 I/L 15 rs16866391 0.2994 None gnomAD-2.1.1 1.62E-05
30731 13 I/L 15 rs16866391 0.2994 None gnomAD-4.0.0 3.49651E-05
30731 13 I/V 15 rs16866391 0.2994 None gnomAD-2.1.1 3.52571E-02
30731 13 I/V 15 rs16866391 0.2994 None gnomAD-3.1.2 1.55402E-02
30731 13 I/V 15 rs16866391 0.2994 None 1000 genomes 3.47444E-02
30731 13 I/V 15 rs16866391 0.2994 None gnomAD-4.0.0 1.09846E-02
30733 15 G/A 17 None 0.1232 None gnomAD-4.0.0 1.59669E-06
30733 15 G/S 17 None 0.1232 None gnomAD-4.0.0 1.59669E-06
30735 17 S/N 19 rs1225964281 0.1296 None gnomAD-4.0.0 1.36972E-06
30736 18 I/T 20 None 0.0895 None gnomAD-4.0.0 2.40064E-06
30737 19 T/N 21 None 0.1516 None gnomAD-4.0.0 3.60097E-06
30738 20 L/R 22 None 0.0940 None gnomAD-4.0.0 4.8013E-06
30739 21 T/I 23 None 0.3376 None gnomAD-4.0.0 1.59172E-06
30740 22 W/R 24 None 0.1391 None gnomAD-4.0.0 1.59165E-06
30741 23 A/V 25 rs202090888 0.4345 None gnomAD-2.1.1 3.58E-05
30741 23 A/V 25 rs202090888 0.4345 None gnomAD-3.1.2 3.94E-05
30741 23 A/V 25 rs202090888 0.4345 None gnomAD-4.0.0 5.08192E-05
30742 24 R/K 26 rs1698436310 0.7329 None gnomAD-4.0.0 3.18285E-06
30742 24 R/W 26 rs1698437169 0.7329 None gnomAD-4.0.0 3.18296E-06
30743 25 P/R 27 rs771621337 0.1695 None gnomAD-2.1.1 4.03E-06
30743 25 P/R 27 rs771621337 0.1695 None gnomAD-4.0.0 3.18291E-06
30747 29 G/C 31 rs759160905 0.4121 None gnomAD-2.1.1 8.05E-06
30747 29 G/C 31 rs759160905 0.4121 None gnomAD-4.0.0 6.15793E-06
30747 29 G/S 31 rs759160905 0.4121 None gnomAD-2.1.1 4.03E-06
30747 29 G/S 31 rs759160905 0.4121 None gnomAD-4.0.0 6.84214E-07
30750 32 E/G 34 None 0.8161 None gnomAD-4.0.0 6.84205E-07
30750 32 E/V 34 None 0.8161 None gnomAD-4.0.0 6.84205E-07
30751 33 I/M 35 None 0.2063 None gnomAD-4.0.0 1.59125E-06
30752 34 Q/E 36 rs1466048751 0.5111 None gnomAD-4.0.0 2.05263E-06
30752 34 Q/H 36 rs1485098760 0.5111 None gnomAD-2.1.1 4.02E-06
30752 34 Q/K 36 rs1466048751 0.5111 None gnomAD-4.0.0 6.84211E-07
30754 36 Y/C 38 None 0.1363 None gnomAD-4.0.0 1.20032E-06
30754 36 Y/D 38 rs369857502 0.1363 None gnomAD-4.0.0 2.05259E-06
30754 36 Y/H 38 rs369857502 0.1363 None gnomAD-2.1.1 4.02E-06
30754 36 Y/H 38 rs369857502 0.1363 None gnomAD-4.0.0 6.84198E-07
30757 39 E/Q 41 None 0.1503 None gnomAD-4.0.0 1.20032E-06
30758 40 R/K 42 None 0.3021 None gnomAD-4.0.0 3.42095E-06
30758 40 R/S 42 None 0.3021 None gnomAD-4.0.0 6.84182E-07
30759 41 R/K 43 rs769687279 0.1851 None gnomAD-2.1.1 4.02E-06
30759 41 R/K 43 rs769687279 0.1851 None gnomAD-4.0.0 1.59115E-06
30760 42 E/Q 44 rs936029222 0.3357 None gnomAD-2.1.1 4.02E-06
30760 42 E/Q 44 rs936029222 0.3357 None gnomAD-4.0.0 1.59116E-06
30762 44 K/Q 54 rs747890554 1.0272 None gnomAD-2.1.1 4.02E-06
30762 44 K/Q 54 rs747890554 1.0272 None gnomAD-4.0.0 2.73672E-06
30762 44 K/R 54 None 1.0272 None gnomAD-4.0.0 1.20032E-06
30764 46 T/K 63 rs376537509 1.0162 None gnomAD-2.1.1 1.61E-05
30764 46 T/K 63 rs376537509 1.0162 None gnomAD-3.1.2 1.31E-05
30764 46 T/K 63 rs376537509 1.0162 None gnomAD-4.0.0 1.92099E-05
30764 46 T/S 63 None 1.0162 None gnomAD-4.0.0 1.20032E-06
30765 47 R/G 64 None 0.7417 None gnomAD-4.0.0 1.59105E-06
30765 47 R/K 64 rs373099440 0.7417 None gnomAD-2.1.1 4.01E-06
30765 47 R/K 64 rs373099440 0.7417 None gnomAD-4.0.0 1.36836E-06
30765 47 R/T 64 rs373099440 0.7417 None gnomAD-2.1.1 1.31908E-04
30765 47 R/T 64 rs373099440 0.7417 None gnomAD-3.1.2 5.71624E-04
30765 47 R/T 64 rs373099440 0.7417 None 1000 genomes 1.99681E-04
30765 47 R/T 64 rs373099440 0.7417 None gnomAD-4.0.0 8.92235E-05
30766 48 W/R 65 rs780067852 0.2487 None gnomAD-2.1.1 4.42E-05
30766 48 W/R 65 rs780067852 0.2487 None gnomAD-4.0.0 2.94196E-05
30767 49 V/A 66 rs1698403843 0.3999 None gnomAD-4.0.0 4.77318E-06
30768 50 K/N 67 None 0.4627 None gnomAD-4.0.0 1.20032E-06
30768 50 K/T 67 None 0.4627 None gnomAD-4.0.0 1.36834E-06
30770 52 I/T 69 None 1.0545 None gnomAD-4.0.0 1.20032E-06
30771 53 S/G 70 rs565582571 0.3388 None gnomAD-2.1.1 6.37E-05
30771 53 S/G 70 rs565582571 0.3388 None gnomAD-3.1.2 1.97E-05
30771 53 S/G 70 rs565582571 0.3388 None 1000 genomes 1.99681E-04
30771 53 S/G 70 rs565582571 0.3388 None gnomAD-4.0.0 4.05911E-06
30771 53 S/R 70 None 0.3388 None gnomAD-4.0.0 1.20032E-06
30773 55 R/Q 72 rs776649477 0.8614 None gnomAD-2.1.1 8.03E-06
30773 55 R/Q 72 rs776649477 0.8614 None gnomAD-3.1.2 6.57E-06
30773 55 R/Q 72 rs776649477 0.8614 None gnomAD-4.0.0 6.19659E-06
30774 56 P/A 75 rs1158503839 0.6362 None gnomAD-2.1.1 4.01E-06
30774 56 P/R 75 rs1399114641 0.6362 None gnomAD-2.1.1 4.01E-06
30774 56 P/R 75 rs1399114641 0.6362 None gnomAD-4.0.0 1.59103E-06
30774 56 P/T 75 None 0.6362 None gnomAD-4.0.0 6.8417E-07
30775 57 I/V 77 rs1410441906 0.1361 None gnomAD-2.1.1 4.01E-06
30775 57 I/V 77 rs1410441906 0.1361 None gnomAD-4.0.0 3.42082E-06
30776 58 S/A 83 None 0.6176 None gnomAD-4.0.0 1.59101E-06
30777 59 E/A 88 None 0.7333 None gnomAD-4.0.0 1.20032E-06
30777 59 E/K 88 None 0.7333 None gnomAD-4.0.0 1.20032E-06
30778 60 T/R 89 rs201019681 0.2201 None gnomAD-2.1.1 8.55E-05
30778 60 T/R 89 rs201019681 0.2201 None gnomAD-3.1.2 1.18307E-04
30778 60 T/R 89 rs201019681 0.2201 None gnomAD-4.0.0 2.29277E-04
30779 61 R/T 90 rs1289817129 0.5498 None gnomAD-4.0.0 3.18207E-06
30780 62 F/L 91 rs1698389479 0.2419 None gnomAD-4.0.0 1.36834E-06
30783 65 T/P 94 None 0.5758 None gnomAD-4.0.0 1.20032E-06
30784 66 G/C 96 rs979303656 0.5366 None gnomAD-2.1.1 6.37E-05
30784 66 G/C 96 rs979303656 0.5366 None gnomAD-3.1.2 1.31E-05
30784 66 G/C 96 rs979303656 0.5366 None gnomAD-4.0.0 1.31427E-05
30784 66 G/R 96 rs979303656 0.5366 None gnomAD-2.1.1 1.07E-05
30784 66 G/R 96 rs979303656 0.5366 None gnomAD-3.1.2 3.29E-05
30784 66 G/R 96 rs979303656 0.5366 None gnomAD-4.0.0 4.33758E-06
30786 68 T/R 98 None 0.4758 None gnomAD-4.0.0 1.20032E-06
30788 70 G/D 100 rs754125601 0.3007 None gnomAD-2.1.1 2.81E-05
30788 70 G/D 100 rs754125601 0.3007 None gnomAD-3.1.2 3.94E-05
30788 70 G/D 100 rs754125601 0.3007 None gnomAD-4.0.0 2.17765E-05
30788 70 G/S 100 rs199891245 0.3007 None gnomAD-2.1.1 6.88013E-04
30788 70 G/S 100 rs199891245 0.3007 None gnomAD-3.1.2 4.99415E-04
30788 70 G/S 100 rs199891245 0.3007 None gnomAD-4.0.0 3.66837E-04
30789 71 N/S 102 rs767252340 0.3637 None gnomAD-2.1.1 8.03E-06
30789 71 N/S 102 rs767252340 0.3637 None gnomAD-4.0.0 2.73669E-06
30789 71 N/T 102 rs767252340 0.3637 None gnomAD-2.1.1 4.01E-06
30789 71 N/T 102 rs767252340 0.3637 None gnomAD-4.0.0 8.21008E-06
30790 72 E/K 103 rs371765494 0.2631 None gnomAD-2.1.1 8.03E-06
30790 72 E/K 103 rs371765494 0.2631 None gnomAD-3.1.2 6.57E-06
30790 72 E/K 103 rs371765494 0.2631 None gnomAD-4.0.0 4.33763E-06
30791 73 Y/C 104 None 0.0982 None gnomAD-4.0.0 1.36837E-06
30791 73 Y/H 104 rs760556090 0.0982 None gnomAD-2.1.1 8.03E-06
30791 73 Y/H 104 rs760556090 0.0982 None gnomAD-3.1.2 6.57E-06
30791 73 Y/H 104 rs760556090 0.0982 None gnomAD-4.0.0 6.57255E-06
30792 74 E/G 105 None 0.1768 None gnomAD-4.0.0 1.59113E-06
30792 74 E/K 105 rs759221234 0.1768 None gnomAD-2.1.1 4.02E-06
30793 75 F/L 106 None 0.1085 None gnomAD-4.0.0 1.20032E-06
30794 76 H/R 107 rs773998423 0.1546 None gnomAD-2.1.1 8.03E-06
30794 76 H/R 107 rs773998423 0.1546 None gnomAD-3.1.2 6.57E-06
30794 76 H/R 107 rs773998423 0.1546 None gnomAD-4.0.0 7.43576E-06
30795 77 V/A 108 rs1415270216 0.0690 None gnomAD-2.1.1 4.02E-06
30795 77 V/A 108 rs1415270216 0.0690 None gnomAD-4.0.0 1.36836E-06
30795 77 V/I 108 rs369025866 0.0690 None gnomAD-2.1.1 8.03E-06
30795 77 V/I 108 rs369025866 0.0690 None gnomAD-3.1.2 6.57E-06
30795 77 V/I 108 rs369025866 0.0690 None gnomAD-4.0.0 9.29489E-06
30795 77 V/L 108 rs369025866 0.0690 None gnomAD-3.1.2 6.57E-06
30795 77 V/L 108 rs369025866 0.0690 None gnomAD-4.0.0 1.23932E-06
30796 78 M/I 109 rs1698372447 0.1497 None gnomAD-4.0.0 4.77336E-06
30796 78 M/V 109 rs773266486 0.1497 None gnomAD-2.1.1 4.02E-06
30797 79 A/V 110 rs1428714908 0.1070 None gnomAD-2.1.1 4.02E-06
30798 80 E/Q 111 None 0.2683 None gnomAD-4.0.0 1.59115E-06
30801 83 A/E 114 None 0.5330 None gnomAD-4.0.0 6.84204E-07
30801 83 A/G 114 None 0.5330 None gnomAD-4.0.0 1.36841E-06
30801 83 A/V 114 rs372570504 0.5330 None gnomAD-2.1.1 3.21E-05
30801 83 A/V 114 rs372570504 0.5330 None gnomAD-3.1.2 1.05143E-04
30801 83 A/V 114 rs372570504 0.5330 None gnomAD-4.0.0 2.5407E-05
30802 84 G/E 115 rs1698367521 0.1989 None gnomAD-3.1.2 6.57E-06
30802 84 G/E 115 rs1698367521 0.1989 None gnomAD-4.0.0 6.57237E-06
30803 85 V/A 117 None 0.3904 None gnomAD-4.0.0 1.59123E-06
30805 87 P/S 119 rs1698365968 0.4778 None gnomAD-3.1.2 6.57E-06
30805 87 P/S 119 rs1698365968 0.4778 None gnomAD-4.0.0 6.57289E-06
30807 89 S/N 121 rs1698363944 0.1366 None gnomAD-3.1.2 6.57E-06
30807 89 S/N 121 rs1698363944 0.1366 None gnomAD-4.0.0 6.57056E-06
30807 89 S/R 121 rs748024667 0.1366 None gnomAD-2.1.1 4.02E-06
30807 89 S/T 121 None 0.1366 None gnomAD-4.0.0 6.00162E-06
30808 90 G/D 122 rs1698362464 0.3036 None gnomAD-3.1.2 6.57E-06
30808 90 G/D 122 rs1698362464 0.3036 None gnomAD-4.0.0 6.57246E-06
30809 91 I/T 123 rs976337472 0.3600 None gnomAD-2.1.1 4.02E-06
30809 91 I/T 123 rs976337472 0.3600 None gnomAD-4.0.0 1.59121E-06
30810 92 S/L 124 rs1021262891 0.1446 None gnomAD-3.1.2 6.57E-06
30810 92 S/L 124 rs1021262891 0.1446 None gnomAD-4.0.0 6.08976E-06
30812 94 L/F 126 rs776239659 0.3869 None gnomAD-2.1.1 4.02E-06
30812 94 L/F 126 rs776239659 0.3869 None gnomAD-4.0.0 3.18262E-06
30813 95 I/T 127 rs768897840 0.1254 None gnomAD-2.1.1 2.41E-05
30813 95 I/T 127 rs768897840 0.1254 None gnomAD-3.1.2 6.57E-06
30813 95 I/T 127 rs768897840 0.1254 None gnomAD-4.0.0 2.91268E-05
30814 96 K/T 129 None 0.4422 None gnomAD-4.0.0 3.18253E-06
30815 97 C/R 130 rs1485333840 0.0868 None gnomAD-3.1.2 6.57E-06
30815 97 C/R 130 rs1485333840 0.0868 None gnomAD-4.0.0 6.57402E-06
30815 97 C/Y 130 rs1185347998 0.0868 None gnomAD-2.1.1 4.02E-06
30815 97 C/Y 130 rs1185347998 0.0868 None gnomAD-4.0.0 2.73687E-06
30817 99 E/D 132 rs397517755 0.4329 None gnomAD-2.1.1 3.57E-05
30817 99 E/D 132 rs397517755 0.4329 None gnomAD-3.1.2 4.6E-05
30817 99 E/D 132 rs397517755 0.4329 None gnomAD-4.0.0 7.12671E-05
30817 99 E/K 132 rs529196025 0.4329 None gnomAD-2.1.1 4.02E-06
30817 99 E/K 132 rs529196025 0.4329 None gnomAD-4.0.0 6.84219E-07
30817 99 E/Q 132 rs529196025 0.4329 None gnomAD-2.1.1 3.21E-05
30817 99 E/Q 132 rs529196025 0.4329 None gnomAD-3.1.2 1.97E-05
30817 99 E/Q 132 rs529196025 0.4329 None 1000 genomes 1.99681E-04
30817 99 E/Q 132 rs529196025 0.4329 None gnomAD-4.0.0 1.17737E-05