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

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
25698 1 V/A 1 None 0.5159 None gnomAD-4.0.0 6.84407E-07
25698 1 V/G 1 rs759278736 0.5159 None gnomAD-2.1.1 1.07E-05
25698 1 V/G 1 rs759278736 0.5159 None gnomAD-3.1.2 2.63E-05
25698 1 V/G 1 rs759278736 0.5159 None gnomAD-4.0.0 3.71939E-06
25698 1 V/M 1 rs1391801848 0.5159 None gnomAD-2.1.1 4.03E-06
25698 1 V/M 1 rs1391801848 0.5159 None gnomAD-4.0.0 1.59245E-06
25699 2 P/S 2 rs1435124022 0.1078 None gnomAD-3.1.2 6.58E-06
25699 2 P/S 2 rs1435124022 0.1078 None gnomAD-4.0.0 6.57756E-06
25701 4 P/L 4 rs374033036 0.2372 None gnomAD-2.1.1 8.06E-06
25701 4 P/L 4 rs374033036 0.2372 None gnomAD-4.0.0 3.18486E-06
25702 5 P/R 5 None 0.1105 None gnomAD-4.0.0 2.40064E-06
25703 6 G/R 6 None 0.1708 None gnomAD-4.0.0 1.36884E-06
25705 8 I/T 9 rs561858074 0.1599 None gnomAD-3.1.2 6.58E-06
25705 8 I/T 9 rs561858074 0.1599 None 1000 genomes 1.99681E-04
25705 8 I/T 9 rs561858074 0.1599 None gnomAD-4.0.0 6.57583E-06
25706 9 T/A 11 rs1707111978 0.3705 None gnomAD-4.0.0 1.59225E-06
25707 10 V/L 12 None 0.3281 None gnomAD-4.0.0 6.84395E-07
25707 10 V/M 12 rs1192473018 0.3281 None gnomAD-2.1.1 4.03E-06
25707 10 V/M 12 rs1192473018 0.3281 None gnomAD-4.0.0 6.84395E-07
25709 12 D/A 14 rs1707103269 0.4467 None gnomAD-3.1.2 6.58E-06
25709 12 D/A 14 rs1707103269 0.4467 None gnomAD-4.0.0 6.57549E-06
25709 12 D/H 14 rs772757849 0.4467 None gnomAD-2.1.1 1.43E-05
25709 12 D/H 14 rs772757849 0.4467 None gnomAD-3.1.2 6.58E-06
25709 12 D/H 14 rs772757849 0.4467 None gnomAD-4.0.0 8.67806E-06
25709 12 D/V 14 rs1707103269 0.4467 None gnomAD-3.1.2 6.58E-06
25709 12 D/V 14 rs1707103269 0.4467 None gnomAD-4.0.0 6.57549E-06
25709 12 D/Y 14 rs772757849 0.4467 None gnomAD-2.1.1 4.03E-06
25710 13 V/I 15 rs1250369056 0.1232 None gnomAD-2.1.1 4.03E-06
25710 13 V/I 15 rs1250369056 0.1232 None gnomAD-3.1.2 2.63E-05
25710 13 V/I 15 rs1250369056 0.1232 None gnomAD-4.0.0 3.7192E-06
25711 14 T/A 16 rs887610262 0.2376 None gnomAD-2.1.1 4.02E-06
25711 14 T/A 16 rs887610262 0.2376 None gnomAD-3.1.2 6.58E-06
25711 14 T/A 16 rs887610262 0.2376 None gnomAD-4.0.0 6.09028E-06
25711 14 T/I 16 None 0.2376 None gnomAD-4.0.0 1.20033E-06
25713 16 N/D 18 rs1484287814 0.4585 None gnomAD-2.1.1 4.02E-06
25713 16 N/D 18 rs1484287814 0.4585 None gnomAD-4.0.0 1.59197E-06
25713 16 N/S 18 rs774259989 0.4585 None gnomAD-4.0.0 1.36868E-06
25716 19 S/P 21 None 0.1885 None gnomAD-4.0.0 6.84348E-07
25718 21 S/I 23 rs1439934941 0.1750 None gnomAD-3.1.2 6.58E-06
25718 21 S/I 23 rs1439934941 0.1750 None gnomAD-4.0.0 6.57748E-06
25719 22 W/C 24 rs1707088255 0.1089 None gnomAD-4.0.0 1.32035E-05
25719 22 W/G 24 None 0.1089 None gnomAD-4.0.0 6.84347E-07
25719 22 W/R 24 None 0.1089 None gnomAD-4.0.0 6.84347E-07
25720 23 T/A 25 rs748079783 0.5014 None gnomAD-2.1.1 8.05E-06
25720 23 T/A 25 rs748079783 0.5014 None gnomAD-4.0.0 2.05306E-06
25721 24 K/Q 26 None 0.7060 None gnomAD-4.0.0 1.20032E-06
25722 25 P/A 27 rs776432275 0.1533 None gnomAD-2.1.1 4.02E-06
25722 25 P/A 27 rs776432275 0.1533 None gnomAD-4.0.0 1.59205E-06
25722 25 P/T 27 None 0.1533 None gnomAD-2.1.1 3.19E-05
25722 25 P/T 27 None 0.1533 None gnomAD-3.1.2 6.58E-06
25722 25 P/T 27 None 0.1533 None gnomAD-4.0.0 6.5786E-06
25724 27 H/N 29 None 0.7855 None gnomAD-4.0.0 1.59204E-06
25724 27 H/R 29 None 0.7855 None gnomAD-2.1.1 4.02E-06
25724 27 H/R 29 None 0.7855 None gnomAD-4.0.0 1.592E-06
25727 30 G/S 32 rs747233995 0.6724 None gnomAD-2.1.1 4.02E-06
25727 30 G/S 32 rs747233995 0.6724 None gnomAD-4.0.0 1.59196E-06
25728 31 S/C 33 rs1306199809 0.2570 None gnomAD-2.1.1 4.02E-06
25728 31 S/C 33 rs1306199809 0.2570 None gnomAD-4.0.0 1.59192E-06
25728 31 S/G 33 rs1306199809 0.2570 None gnomAD-4.0.0 1.59192E-06
25729 32 K/N 34 rs531490944 0.7955 None gnomAD-2.1.1 2.82E-05
25729 32 K/N 34 rs531490944 0.7955 None gnomAD-3.1.2 6.58E-06
25729 32 K/N 34 rs531490944 0.7955 None 1000 genomes 1.99681E-04
25729 32 K/N 34 rs531490944 0.7955 None gnomAD-4.0.0 1.36354E-05
25730 33 I/F 35 None 0.1744 None gnomAD-4.0.0 1.36869E-06
25730 33 I/V 35 rs745981754 0.1744 None gnomAD-2.1.1 2.41E-05
25730 33 I/V 35 rs745981754 0.1744 None gnomAD-3.1.2 1.32E-05
25730 33 I/V 35 rs745981754 0.1744 None gnomAD-4.0.0 9.29762E-06
25731 34 I/F 36 rs1465344199 0.4293 None gnomAD-2.1.1 4.02E-06
25731 34 I/F 36 rs1465344199 0.4293 None gnomAD-4.0.0 6.8434E-07
25731 34 I/L 36 None 0.4293 None gnomAD-4.0.0 1.36868E-06
25731 34 I/T 36 None 0.4293 None gnomAD-4.0.0 1.20032E-06
25732 35 Q/H 37 None 0.2808 None gnomAD-4.0.0 6.84347E-07
25732 35 Q/R 37 rs779015495 0.2808 None gnomAD-2.1.1 1.21E-05
25732 35 Q/R 37 rs779015495 0.2808 None gnomAD-4.0.0 4.77599E-06
25733 36 Y/H 38 None 0.1198 None gnomAD-4.0.0 1.20032E-06
25734 37 I/V 39 None 0.1116 None gnomAD-4.0.0 2.73739E-06
25735 38 V/M 40 rs369532567 0.1092 None gnomAD-2.1.1 4.02E-06
25735 38 V/M 40 rs369532567 0.1092 None gnomAD-3.1.2 6.58E-06
25735 38 V/M 40 rs369532567 0.1092 None gnomAD-4.0.0 2.56345E-06
25736 39 E/K 41 None 0.1862 None gnomAD-4.0.0 1.59209E-06
25736 39 E/Q 41 None 0.1862 None gnomAD-4.0.0 1.59209E-06
25738 41 Q/K 43 None 0.1664 None gnomAD-4.0.0 6.8438E-07
25739 42 A/G 44 rs56391938 0.2334 None gnomAD-2.1.1 5.3937E-04
25739 42 A/G 44 rs56391938 0.2334 None gnomAD-3.1.2 4.93467E-04
25739 42 A/G 44 rs56391938 0.2334 None 1000 genomes 1.99681E-04
25739 42 A/G 44 rs56391938 0.2334 None gnomAD-4.0.0 7.34547E-04
25739 42 A/P 44 None 0.2334 None gnomAD-4.0.0 1.59227E-06
25740 43 K/Q 50 None 0.4936 None gnomAD-4.0.0 1.59226E-06
25741 44 H/Y 51 rs756616171 0.8532 None gnomAD-2.1.1 4.02E-06
25741 44 H/Y 51 rs756616171 0.8532 None gnomAD-4.0.0 2.73763E-06
25742 45 S/N 60 rs1707054015 0.3108 None gnomAD-3.1.2 6.58E-06
25742 45 S/N 60 rs1707054015 0.3108 None gnomAD-4.0.0 6.57505E-06
25742 45 S/R 60 rs753101927 0.3108 None gnomAD-2.1.1 4.02E-06
25742 45 S/R 60 rs753101927 0.3108 None gnomAD-4.0.0 1.36885E-06
25743 46 E/K 63 rs765997807 1.0171 None gnomAD-2.1.1 4.02E-06
25743 46 E/K 63 rs765997807 1.0171 None gnomAD-4.0.0 2.73771E-06
25743 46 E/Q 63 None 1.0171 None gnomAD-4.0.0 6.84428E-07
25744 47 K/N 64 rs1482499927 0.8672 None gnomAD-2.1.1 4.02E-06
25744 47 K/N 64 rs1482499927 0.8672 None gnomAD-4.0.0 6.84423E-07
25745 48 W/R 65 None 0.2830 None gnomAD-4.0.0 1.20033E-06
25746 49 S/L 66 None 0.4362 None gnomAD-4.0.0 6.84455E-07
25746 49 S/P 66 None 0.4362 None gnomAD-4.0.0 1.20033E-06
25747 50 E/Q 67 rs762636595 0.3634 None gnomAD-2.1.1 4.02E-06
25747 50 E/Q 67 rs762636595 0.3634 None gnomAD-4.0.0 2.05334E-06
25747 50 E/V 67 None 0.3634 None gnomAD-4.0.0 6.84445E-07
25748 51 C/R 68 rs1162453553 0.2703 None gnomAD-3.1.2 6.58E-06
25748 51 C/R 68 rs1162453553 0.2703 None gnomAD-4.0.0 2.56433E-06
25748 51 C/Y 68 rs772628162 0.2703 None gnomAD-2.1.1 4.02E-06
25748 51 C/Y 68 rs772628162 0.2703 None gnomAD-4.0.0 3.42228E-06
25749 52 A/V 69 None 0.2061 None gnomAD-4.0.0 1.59288E-06
25750 53 R/P 70 rs368038362 0.3769 None gnomAD-2.1.1 7.15E-06
25750 53 R/P 70 rs368038362 0.3769 None gnomAD-3.1.2 6.58E-06
25750 53 R/P 70 rs368038362 0.3769 None gnomAD-4.0.0 1.8599E-06
25750 53 R/Q 70 rs368038362 0.3769 None gnomAD-2.1.1 1.14375E-04
25750 53 R/Q 70 rs368038362 0.3769 None gnomAD-3.1.2 7.23E-05
25750 53 R/Q 70 rs368038362 0.3769 None gnomAD-4.0.0 1.10974E-04
25751 54 V/I 77 rs1707037065 0.1984 None gnomAD-4.0.0 1.59276E-06
25753 56 S/A 88 None 0.3015 None gnomAD-4.0.0 3.60098E-06
25753 56 S/Y 88 rs1286606791 0.3015 None gnomAD-2.1.1 4.03E-06
25753 56 S/Y 88 rs1286606791 0.3015 None gnomAD-4.0.0 2.73806E-06
25754 57 L/P 89 rs1369560200 0.2933 None gnomAD-2.1.1 3.19E-05
25754 57 L/P 89 rs1369560200 0.2933 None gnomAD-3.1.2 6.58E-06
25754 57 L/P 89 rs1369560200 0.2933 None gnomAD-4.0.0 6.57557E-06
25756 59 A/G 91 None 0.1626 None gnomAD-4.0.0 6.84539E-07
25757 60 V/A 92 rs888818269 0.5370 None gnomAD-3.1.2 6.57E-06
25757 60 V/A 92 rs888818269 0.5370 None gnomAD-4.0.0 1.85984E-06
25757 60 V/E 92 None 0.5370 None gnomAD-4.0.0 6.84488E-07
25757 60 V/L 92 rs1307639752 0.5370 None gnomAD-4.0.0 1.59281E-06
25758 61 I/V 93 None 0.1326 None gnomAD-4.0.0 2.40065E-06
25759 62 T/N 94 rs1399797498 0.4929 None gnomAD-2.1.1 4.03E-06
25759 62 T/N 94 rs1399797498 0.4929 None gnomAD-4.0.0 1.59287E-06
25760 63 N/K 96 None 0.8727 None gnomAD-4.0.0 6.84495E-07
25760 63 N/S 96 rs3813246 0.8727 None gnomAD-2.1.1 2.57166E-02
25760 63 N/S 96 rs3813246 0.8727 None gnomAD-3.1.2 2.01989E-02
25760 63 N/S 96 rs3813246 0.8727 None 1000 genomes 2.23642E-02
25760 63 N/S 96 rs3813246 0.8727 None gnomAD-4.0.0 2.28761E-02
25761 64 L/I 97 rs775330925 0.1251 None gnomAD-2.1.1 4.03E-06
25761 64 L/I 97 rs775330925 0.1251 None gnomAD-4.0.0 3.18564E-06
25762 65 T/I 98 None 0.5195 None gnomAD-4.0.0 1.20032E-06
25762 65 T/N 98 None 0.5195 None gnomAD-4.0.0 2.40065E-06
25762 65 T/P 98 rs1387446421 0.5195 None gnomAD-2.1.1 4.03E-06
25762 65 T/P 98 rs1387446421 0.5195 None gnomAD-4.0.0 6.84492E-07
25762 65 T/S 98 None 0.5195 None gnomAD-4.0.0 2.05348E-06
25763 66 Q/K 99 None 0.6047 None gnomAD-4.0.0 1.5929E-06
25763 66 Q/P 99 None 0.6047 None gnomAD-4.0.0 2.73845E-06
25763 66 Q/R 99 None 0.6047 None gnomAD-4.0.0 6.84584E-07
25764 67 G/R 100 None 0.3705 None gnomAD-3.1.2 6.58E-06
25764 67 G/R 100 None 0.3705 None gnomAD-4.0.0 2.05348E-06
25767 70 Y/N 104 rs1303024823 0.1369 None gnomAD-4.0.0 2.73781E-06
25768 71 L/I 105 rs541266544 0.3318 None gnomAD-2.1.1 1.10953E-04
25768 71 L/I 105 rs541266544 0.3318 None gnomAD-3.1.2 5.26E-05
25768 71 L/I 105 rs541266544 0.3318 None 1000 genomes 3.99361E-04
25768 71 L/I 105 rs541266544 0.3318 None gnomAD-4.0.0 6.13697E-05
25768 71 L/P 105 rs572569285 0.3318 None gnomAD-2.1.1 4.03E-06
25768 71 L/P 105 rs572569285 0.3318 None gnomAD-3.1.2 6.58E-06
25768 71 L/P 105 rs572569285 0.3318 None 1000 genomes 1.99681E-04
25768 71 L/P 105 rs572569285 0.3318 None gnomAD-4.0.0 2.56364E-06
25768 71 L/V 105 rs541266544 0.3318 None gnomAD-4.0.0 2.73782E-06
25769 72 F/L 106 rs778877994 0.1333 None gnomAD-2.1.1 4.03E-06
25770 73 R/S 107 None 0.1394 None gnomAD-4.0.0 1.20032E-06
25771 74 V/A 108 None 0.0835 None gnomAD-4.0.0 6.84433E-07
25771 74 V/G 108 rs1184590631 0.0835 None gnomAD-2.1.1 4.03E-06
25771 74 V/G 108 rs1184590631 0.0835 None gnomAD-4.0.0 6.84433E-07
25772 75 V/I 109 None 0.1079 None gnomAD-4.0.0 6.84437E-07
25773 76 A/D 110 None 0.0686 None gnomAD-4.0.0 1.59257E-06
25773 76 A/T 110 rs757299028 0.0686 None gnomAD-2.1.1 1.21E-05
25773 76 A/T 110 rs757299028 0.0686 None gnomAD-4.0.0 4.77753E-06
25774 77 V/I 111 rs56340968 0.1392 None gnomAD-2.1.1 1.79E-05
25774 77 V/I 111 rs56340968 0.1392 None gnomAD-3.1.2 2.63E-05
25774 77 V/I 111 rs56340968 0.1392 None gnomAD-4.0.0 4.95942E-06
25774 77 V/L 111 rs56340968 0.1392 None gnomAD-4.0.0 2.05333E-06
25777 80 K/E 114 rs778484596 0.7548 None gnomAD-2.1.1 4.04E-06
25777 80 K/E 114 rs778484596 0.7548 None gnomAD-3.1.2 6.58E-06
25777 80 K/E 114 rs778484596 0.7548 None gnomAD-4.0.0 6.81906E-05
25778 81 G/R 115 rs1264868756 0.2081 None gnomAD-2.1.1 7.17E-06
25778 81 G/R 115 rs1264868756 0.2081 None gnomAD-3.1.2 1.32E-05
25778 81 G/R 115 rs1264868756 0.2081 None gnomAD-4.0.0 6.84443E-07
25780 83 S/N 118 rs555798738 0.0944 None gnomAD-2.1.1 4.04E-06
25780 83 S/N 118 rs555798738 0.0944 None gnomAD-3.1.2 6.58E-06
25780 83 S/N 118 rs555798738 0.0944 None 1000 genomes 1.99681E-04
25780 83 S/N 118 rs555798738 0.0944 None gnomAD-4.0.0 6.57108E-06
25781 84 D/H 119 None 0.8083 None gnomAD-4.0.0 5.47656E-06
25781 84 D/N 119 None 0.8083 None gnomAD-4.0.0 2.05371E-06
25781 84 D/V 119 rs1338611870 0.8083 None gnomAD-2.1.1 4.04E-06
25781 84 D/V 119 rs1338611870 0.8083 None gnomAD-4.0.0 1.59291E-06
25783 86 R/Q 121 rs777428147 0.3614 None gnomAD-2.1.1 6.1E-05
25783 86 R/Q 121 rs777428147 0.3614 None gnomAD-3.1.2 4.6E-05
25783 86 R/Q 121 rs777428147 0.3614 None gnomAD-4.0.0 4.09253E-05
25783 86 R/W 121 rs758010128 0.3614 None gnomAD-2.1.1 1.21E-05
25783 86 R/W 121 rs758010128 0.3614 None gnomAD-3.1.2 6.58E-06
25783 86 R/W 121 rs758010128 0.3614 None gnomAD-4.0.0 6.20017E-06
25784 87 S/C 122 None 0.3751 None gnomAD-4.0.0 6.84554E-07
25784 87 S/P 122 rs1383491099 0.3751 None gnomAD-2.1.1 4.04E-06
25784 87 S/P 122 rs1383491099 0.3751 None gnomAD-4.0.0 1.5931E-06
25785 88 L/P 123 rs1385070612 0.2631 None gnomAD-2.1.1 8.09E-06
25785 88 L/P 123 rs1385070612 0.2631 None gnomAD-4.0.0 5.47675E-06
25785 88 L/R 123 None 0.2631 None gnomAD-4.0.0 3.42297E-06
25786 89 A/E 124 None 0.7182 None gnomAD-4.0.0 2.73837E-06
25787 90 V/F 125 None 0.6938 None gnomAD-4.0.0 6.84622E-07
25787 90 V/L 125 rs988340792 0.6938 None gnomAD-3.1.2 6.57E-06
25787 90 V/L 125 rs988340792 0.6938 None gnomAD-4.0.0 5.58049E-06
25788 91 P/A 126 None 0.3807 None gnomAD-4.0.0 2.40065E-06
25788 91 P/S 126 rs939575680 0.3807 None gnomAD-3.1.2 6.58E-06
25788 91 P/S 126 rs939575680 0.3807 None gnomAD-4.0.0 6.57756E-06
25789 92 I/L 127 rs1253687329 0.1670 None gnomAD-4.0.0 1.20032E-06
25789 92 I/V 127 rs1253687329 0.1670 None gnomAD-4.0.0 1.20032E-06
25790 93 V/A 129 None 0.3256 None gnomAD-4.0.0 1.5936E-06