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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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25698 1 V/A 1 None 0.4511 None gnomAD-4.0.0 6.84407E-07
25698 1 V/G 1 rs759278736 0.4511 None gnomAD-2.1.1 1.07E-05
25698 1 V/G 1 rs759278736 0.4511 None gnomAD-3.1.2 2.63E-05
25698 1 V/G 1 rs759278736 0.4511 None gnomAD-4.0.0 3.71939E-06
25698 1 V/M 1 rs1391801848 0.4511 None gnomAD-2.1.1 4.03E-06
25698 1 V/M 1 rs1391801848 0.4511 None gnomAD-4.0.0 1.59245E-06
25699 2 P/S 2 rs1435124022 0.1067 None gnomAD-3.1.2 6.58E-06
25699 2 P/S 2 rs1435124022 0.1067 None gnomAD-4.0.0 6.57756E-06
25701 4 P/L 4 rs374033036 0.1549 None gnomAD-2.1.1 8.06E-06
25701 4 P/L 4 rs374033036 0.1549 None gnomAD-4.0.0 3.18486E-06
25702 5 P/R 5 None 0.1006 None gnomAD-4.0.0 2.40064E-06
25703 6 G/R 6 None 0.1900 None gnomAD-4.0.0 1.36884E-06
25705 8 I/T 9 rs561858074 0.1147 None gnomAD-3.1.2 6.58E-06
25705 8 I/T 9 rs561858074 0.1147 None 1000 genomes 1.99681E-04
25705 8 I/T 9 rs561858074 0.1147 None gnomAD-4.0.0 6.57583E-06
25706 9 T/A 11 rs1707111978 0.4112 None gnomAD-4.0.0 1.59225E-06
25707 10 V/L 12 None 0.4370 None gnomAD-4.0.0 6.84395E-07
25707 10 V/M 12 rs1192473018 0.4370 None gnomAD-2.1.1 4.03E-06
25707 10 V/M 12 rs1192473018 0.4370 None gnomAD-4.0.0 6.84395E-07
25709 12 D/A 14 rs1707103269 0.4351 None gnomAD-3.1.2 6.58E-06
25709 12 D/A 14 rs1707103269 0.4351 None gnomAD-4.0.0 6.57549E-06
25709 12 D/H 14 rs772757849 0.4351 None gnomAD-2.1.1 1.43E-05
25709 12 D/H 14 rs772757849 0.4351 None gnomAD-3.1.2 6.58E-06
25709 12 D/H 14 rs772757849 0.4351 None gnomAD-4.0.0 8.67806E-06
25709 12 D/V 14 rs1707103269 0.4351 None gnomAD-3.1.2 6.58E-06
25709 12 D/V 14 rs1707103269 0.4351 None gnomAD-4.0.0 6.57549E-06
25709 12 D/Y 14 rs772757849 0.4351 None gnomAD-2.1.1 4.03E-06
25710 13 V/I 15 rs1250369056 0.2717 None gnomAD-2.1.1 4.03E-06
25710 13 V/I 15 rs1250369056 0.2717 None gnomAD-3.1.2 2.63E-05
25710 13 V/I 15 rs1250369056 0.2717 None gnomAD-4.0.0 3.7192E-06
25711 14 T/A 16 rs887610262 0.2068 None gnomAD-2.1.1 4.02E-06
25711 14 T/A 16 rs887610262 0.2068 None gnomAD-3.1.2 6.58E-06
25711 14 T/A 16 rs887610262 0.2068 None gnomAD-4.0.0 6.09028E-06
25711 14 T/I 16 None 0.2068 None gnomAD-4.0.0 1.20033E-06
25713 16 N/D 18 rs1484287814 0.4445 None gnomAD-2.1.1 4.02E-06
25713 16 N/D 18 rs1484287814 0.4445 None gnomAD-4.0.0 1.59197E-06
25713 16 N/S 18 rs774259989 0.4445 None gnomAD-4.0.0 1.36868E-06
25716 19 S/P 21 None 0.1553 None gnomAD-4.0.0 6.84348E-07
25718 21 S/I 23 rs1439934941 0.1986 None gnomAD-3.1.2 6.58E-06
25718 21 S/I 23 rs1439934941 0.1986 None gnomAD-4.0.0 6.57748E-06
25719 22 W/C 24 rs1707088255 0.1033 None gnomAD-4.0.0 1.32035E-05
25719 22 W/G 24 None 0.1033 None gnomAD-4.0.0 6.84347E-07
25719 22 W/R 24 None 0.1033 None gnomAD-4.0.0 6.84347E-07
25720 23 T/A 25 rs748079783 0.5680 None gnomAD-2.1.1 8.05E-06
25720 23 T/A 25 rs748079783 0.5680 None gnomAD-4.0.0 2.05306E-06
25721 24 K/Q 26 None 0.5792 None gnomAD-4.0.0 1.20032E-06
25722 25 P/A 27 rs776432275 0.1442 None gnomAD-2.1.1 4.02E-06
25722 25 P/A 27 rs776432275 0.1442 None gnomAD-4.0.0 1.59205E-06
25722 25 P/T 27 None 0.1442 None gnomAD-2.1.1 3.19E-05
25722 25 P/T 27 None 0.1442 None gnomAD-3.1.2 6.58E-06
25722 25 P/T 27 None 0.1442 None gnomAD-4.0.0 6.5786E-06
25724 27 H/N 29 None 0.5244 None gnomAD-4.0.0 1.59204E-06
25724 27 H/R 29 None 0.5244 None gnomAD-2.1.1 4.02E-06
25724 27 H/R 29 None 0.5244 None gnomAD-4.0.0 1.592E-06
25727 30 G/S 32 rs747233995 0.5116 None gnomAD-2.1.1 4.02E-06
25727 30 G/S 32 rs747233995 0.5116 None gnomAD-4.0.0 1.59196E-06
25728 31 S/C 33 rs1306199809 0.1714 None gnomAD-2.1.1 4.02E-06
25728 31 S/C 33 rs1306199809 0.1714 None gnomAD-4.0.0 1.59192E-06
25728 31 S/G 33 rs1306199809 0.1714 None gnomAD-4.0.0 1.59192E-06
25729 32 K/N 34 rs531490944 0.6526 None gnomAD-2.1.1 2.82E-05
25729 32 K/N 34 rs531490944 0.6526 None gnomAD-3.1.2 6.58E-06
25729 32 K/N 34 rs531490944 0.6526 None 1000 genomes 1.99681E-04
25729 32 K/N 34 rs531490944 0.6526 None gnomAD-4.0.0 1.36354E-05
25730 33 I/F 35 None 0.1692 None gnomAD-4.0.0 1.36869E-06
25730 33 I/V 35 rs745981754 0.1692 None gnomAD-2.1.1 2.41E-05
25730 33 I/V 35 rs745981754 0.1692 None gnomAD-3.1.2 1.32E-05
25730 33 I/V 35 rs745981754 0.1692 None gnomAD-4.0.0 9.29762E-06
25731 34 I/F 36 rs1465344199 0.4863 None gnomAD-2.1.1 4.02E-06
25731 34 I/F 36 rs1465344199 0.4863 None gnomAD-4.0.0 6.8434E-07
25731 34 I/L 36 None 0.4863 None gnomAD-4.0.0 1.36868E-06
25731 34 I/T 36 None 0.4863 None gnomAD-4.0.0 1.20032E-06
25732 35 Q/H 37 None 0.2312 None gnomAD-4.0.0 6.84347E-07
25732 35 Q/R 37 rs779015495 0.2312 None gnomAD-2.1.1 1.21E-05
25732 35 Q/R 37 rs779015495 0.2312 None gnomAD-4.0.0 4.77599E-06
25733 36 Y/H 38 None 0.0991 None gnomAD-4.0.0 1.20032E-06
25734 37 I/V 39 None 0.1861 None gnomAD-4.0.0 2.73739E-06
25735 38 V/M 40 rs369532567 0.1094 None gnomAD-2.1.1 4.02E-06
25735 38 V/M 40 rs369532567 0.1094 None gnomAD-3.1.2 6.58E-06
25735 38 V/M 40 rs369532567 0.1094 None gnomAD-4.0.0 2.56345E-06
25736 39 E/K 41 None 0.1486 None gnomAD-4.0.0 1.59209E-06
25736 39 E/Q 41 None 0.1486 None gnomAD-4.0.0 1.59209E-06
25738 41 Q/K 43 None 0.1459 None gnomAD-4.0.0 6.8438E-07
25739 42 A/G 44 rs56391938 0.2050 None gnomAD-2.1.1 5.3937E-04
25739 42 A/G 44 rs56391938 0.2050 None gnomAD-3.1.2 4.93467E-04
25739 42 A/G 44 rs56391938 0.2050 None 1000 genomes 1.99681E-04
25739 42 A/G 44 rs56391938 0.2050 None gnomAD-4.0.0 7.34547E-04
25739 42 A/P 44 None 0.2050 None gnomAD-4.0.0 1.59227E-06
25740 43 K/Q 50 None 0.5146 None gnomAD-4.0.0 1.59226E-06
25741 44 H/Y 51 rs756616171 0.7920 None gnomAD-2.1.1 4.02E-06
25741 44 H/Y 51 rs756616171 0.7920 None gnomAD-4.0.0 2.73763E-06
25742 45 S/N 60 rs1707054015 0.2892 None gnomAD-3.1.2 6.58E-06
25742 45 S/N 60 rs1707054015 0.2892 None gnomAD-4.0.0 6.57505E-06
25742 45 S/R 60 rs753101927 0.2892 None gnomAD-2.1.1 4.02E-06
25742 45 S/R 60 rs753101927 0.2892 None gnomAD-4.0.0 1.36885E-06
25743 46 E/K 63 rs765997807 0.9039 None gnomAD-2.1.1 4.02E-06
25743 46 E/K 63 rs765997807 0.9039 None gnomAD-4.0.0 2.73771E-06
25743 46 E/Q 63 None 0.9039 None gnomAD-4.0.0 6.84428E-07
25744 47 K/N 64 rs1482499927 0.6327 None gnomAD-2.1.1 4.02E-06
25744 47 K/N 64 rs1482499927 0.6327 None gnomAD-4.0.0 6.84423E-07
25745 48 W/R 65 None 0.2686 None gnomAD-4.0.0 1.20033E-06
25746 49 S/L 66 None 0.4435 None gnomAD-4.0.0 6.84455E-07
25746 49 S/P 66 None 0.4435 None gnomAD-4.0.0 1.20033E-06
25747 50 E/Q 67 rs762636595 0.6087 None gnomAD-2.1.1 4.02E-06
25747 50 E/Q 67 rs762636595 0.6087 None gnomAD-4.0.0 2.05334E-06
25747 50 E/V 67 None 0.6087 None gnomAD-4.0.0 6.84445E-07
25748 51 C/R 68 rs1162453553 0.2759 None gnomAD-3.1.2 6.58E-06
25748 51 C/R 68 rs1162453553 0.2759 None gnomAD-4.0.0 2.56433E-06
25748 51 C/Y 68 rs772628162 0.2759 None gnomAD-2.1.1 4.02E-06
25748 51 C/Y 68 rs772628162 0.2759 None gnomAD-4.0.0 3.42228E-06
25749 52 A/V 69 None 0.2218 None gnomAD-4.0.0 1.59288E-06
25750 53 R/P 70 rs368038362 0.5360 None gnomAD-2.1.1 7.15E-06
25750 53 R/P 70 rs368038362 0.5360 None gnomAD-3.1.2 6.58E-06
25750 53 R/P 70 rs368038362 0.5360 None gnomAD-4.0.0 1.8599E-06
25750 53 R/Q 70 rs368038362 0.5360 None gnomAD-2.1.1 1.14375E-04
25750 53 R/Q 70 rs368038362 0.5360 None gnomAD-3.1.2 7.23E-05
25750 53 R/Q 70 rs368038362 0.5360 None gnomAD-4.0.0 1.10974E-04
25751 54 V/I 77 rs1707037065 0.1969 None gnomAD-4.0.0 1.59276E-06
25753 56 S/A 88 None 0.3412 None gnomAD-4.0.0 3.60098E-06
25753 56 S/Y 88 rs1286606791 0.3412 None gnomAD-2.1.1 4.03E-06
25753 56 S/Y 88 rs1286606791 0.3412 None gnomAD-4.0.0 2.73806E-06
25754 57 L/P 89 rs1369560200 0.2617 None gnomAD-2.1.1 3.19E-05
25754 57 L/P 89 rs1369560200 0.2617 None gnomAD-3.1.2 6.58E-06
25754 57 L/P 89 rs1369560200 0.2617 None gnomAD-4.0.0 6.57557E-06
25756 59 A/G 91 None 0.1891 None gnomAD-4.0.0 6.84539E-07
25757 60 V/A 92 rs888818269 0.6008 None gnomAD-3.1.2 6.57E-06
25757 60 V/A 92 rs888818269 0.6008 None gnomAD-4.0.0 1.85984E-06
25757 60 V/E 92 None 0.6008 None gnomAD-4.0.0 6.84488E-07
25757 60 V/L 92 rs1307639752 0.6008 None gnomAD-4.0.0 1.59281E-06
25758 61 I/V 93 None 0.1642 None gnomAD-4.0.0 2.40065E-06
25759 62 T/N 94 rs1399797498 0.5392 None gnomAD-2.1.1 4.03E-06
25759 62 T/N 94 rs1399797498 0.5392 None gnomAD-4.0.0 1.59287E-06
25760 63 N/K 96 None 0.9486 None gnomAD-4.0.0 6.84495E-07
25760 63 N/S 96 rs3813246 0.9486 None gnomAD-2.1.1 2.57166E-02
25760 63 N/S 96 rs3813246 0.9486 None gnomAD-3.1.2 2.01989E-02
25760 63 N/S 96 rs3813246 0.9486 None 1000 genomes 2.23642E-02
25760 63 N/S 96 rs3813246 0.9486 None gnomAD-4.0.0 2.28761E-02
25761 64 L/I 97 rs775330925 0.1257 None gnomAD-2.1.1 4.03E-06
25761 64 L/I 97 rs775330925 0.1257 None gnomAD-4.0.0 3.18564E-06
25762 65 T/I 98 None 0.3970 None gnomAD-4.0.0 1.20032E-06
25762 65 T/N 98 None 0.3970 None gnomAD-4.0.0 2.40065E-06
25762 65 T/P 98 rs1387446421 0.3970 None gnomAD-2.1.1 4.03E-06
25762 65 T/P 98 rs1387446421 0.3970 None gnomAD-4.0.0 6.84492E-07
25762 65 T/S 98 None 0.3970 None gnomAD-4.0.0 2.05348E-06
25763 66 Q/K 99 None 0.3894 None gnomAD-4.0.0 1.5929E-06
25763 66 Q/P 99 None 0.3894 None gnomAD-4.0.0 2.73845E-06
25763 66 Q/R 99 None 0.3894 None gnomAD-4.0.0 6.84584E-07
25764 67 G/R 100 None 0.3019 None gnomAD-3.1.2 6.58E-06
25764 67 G/R 100 None 0.3019 None gnomAD-4.0.0 2.05348E-06
25767 70 Y/N 104 rs1303024823 0.0914 None gnomAD-4.0.0 2.73781E-06
25768 71 L/I 105 rs541266544 0.2414 None gnomAD-2.1.1 1.10953E-04
25768 71 L/I 105 rs541266544 0.2414 None gnomAD-3.1.2 5.26E-05
25768 71 L/I 105 rs541266544 0.2414 None 1000 genomes 3.99361E-04
25768 71 L/I 105 rs541266544 0.2414 None gnomAD-4.0.0 6.13697E-05
25768 71 L/P 105 rs572569285 0.2414 None gnomAD-2.1.1 4.03E-06
25768 71 L/P 105 rs572569285 0.2414 None gnomAD-3.1.2 6.58E-06
25768 71 L/P 105 rs572569285 0.2414 None 1000 genomes 1.99681E-04
25768 71 L/P 105 rs572569285 0.2414 None gnomAD-4.0.0 2.56364E-06
25768 71 L/V 105 rs541266544 0.2414 None gnomAD-4.0.0 2.73782E-06
25769 72 F/L 106 rs778877994 0.1212 None gnomAD-2.1.1 4.03E-06
25770 73 R/S 107 None 0.1554 None gnomAD-4.0.0 1.20032E-06
25771 74 V/A 108 None 0.0839 None gnomAD-4.0.0 6.84433E-07
25771 74 V/G 108 rs1184590631 0.0839 None gnomAD-2.1.1 4.03E-06
25771 74 V/G 108 rs1184590631 0.0839 None gnomAD-4.0.0 6.84433E-07
25772 75 V/I 109 None 0.0789 None gnomAD-4.0.0 6.84437E-07
25773 76 A/D 110 None 0.0610 None gnomAD-4.0.0 1.59257E-06
25773 76 A/T 110 rs757299028 0.0610 None gnomAD-2.1.1 1.21E-05
25773 76 A/T 110 rs757299028 0.0610 None gnomAD-4.0.0 4.77753E-06
25774 77 V/I 111 rs56340968 0.1643 None gnomAD-2.1.1 1.79E-05
25774 77 V/I 111 rs56340968 0.1643 None gnomAD-3.1.2 2.63E-05
25774 77 V/I 111 rs56340968 0.1643 None gnomAD-4.0.0 4.95942E-06
25774 77 V/L 111 rs56340968 0.1643 None gnomAD-4.0.0 2.05333E-06
25777 80 K/E 114 rs778484596 0.4060 None gnomAD-2.1.1 4.04E-06
25777 80 K/E 114 rs778484596 0.4060 None gnomAD-3.1.2 6.58E-06
25777 80 K/E 114 rs778484596 0.4060 None gnomAD-4.0.0 6.81906E-05
25778 81 G/R 115 rs1264868756 0.1761 None gnomAD-2.1.1 7.17E-06
25778 81 G/R 115 rs1264868756 0.1761 None gnomAD-3.1.2 1.32E-05
25778 81 G/R 115 rs1264868756 0.1761 None gnomAD-4.0.0 6.84443E-07
25780 83 S/N 118 rs555798738 0.0750 None gnomAD-2.1.1 4.04E-06
25780 83 S/N 118 rs555798738 0.0750 None gnomAD-3.1.2 6.58E-06
25780 83 S/N 118 rs555798738 0.0750 None 1000 genomes 1.99681E-04
25780 83 S/N 118 rs555798738 0.0750 None gnomAD-4.0.0 6.57108E-06
25781 84 D/H 119 None 0.7587 None gnomAD-4.0.0 5.47656E-06
25781 84 D/N 119 None 0.7587 None gnomAD-4.0.0 2.05371E-06
25781 84 D/V 119 rs1338611870 0.7587 None gnomAD-2.1.1 4.04E-06
25781 84 D/V 119 rs1338611870 0.7587 None gnomAD-4.0.0 1.59291E-06
25783 86 R/Q 121 rs777428147 0.3648 None gnomAD-2.1.1 6.1E-05
25783 86 R/Q 121 rs777428147 0.3648 None gnomAD-3.1.2 4.6E-05
25783 86 R/Q 121 rs777428147 0.3648 None gnomAD-4.0.0 4.09253E-05
25783 86 R/W 121 rs758010128 0.3648 None gnomAD-2.1.1 1.21E-05
25783 86 R/W 121 rs758010128 0.3648 None gnomAD-3.1.2 6.58E-06
25783 86 R/W 121 rs758010128 0.3648 None gnomAD-4.0.0 6.20017E-06
25784 87 S/C 122 None 0.3597 None gnomAD-4.0.0 6.84554E-07
25784 87 S/P 122 rs1383491099 0.3597 None gnomAD-2.1.1 4.04E-06
25784 87 S/P 122 rs1383491099 0.3597 None gnomAD-4.0.0 1.5931E-06
25785 88 L/P 123 rs1385070612 0.1787 None gnomAD-2.1.1 8.09E-06
25785 88 L/P 123 rs1385070612 0.1787 None gnomAD-4.0.0 5.47675E-06
25785 88 L/R 123 None 0.1787 None gnomAD-4.0.0 3.42297E-06
25786 89 A/E 124 None 0.5402 None gnomAD-4.0.0 2.73837E-06
25787 90 V/F 125 None 0.5209 None gnomAD-4.0.0 6.84622E-07
25787 90 V/L 125 rs988340792 0.5209 None gnomAD-3.1.2 6.57E-06
25787 90 V/L 125 rs988340792 0.5209 None gnomAD-4.0.0 5.58049E-06
25788 91 P/A 126 None 0.4145 None gnomAD-4.0.0 2.40065E-06
25788 91 P/S 126 rs939575680 0.4145 None gnomAD-3.1.2 6.58E-06
25788 91 P/S 126 rs939575680 0.4145 None gnomAD-4.0.0 6.57756E-06
25789 92 I/L 127 rs1253687329 0.1790 None gnomAD-4.0.0 1.20032E-06
25789 92 I/V 127 rs1253687329 0.1790 None gnomAD-4.0.0 1.20032E-06
25790 93 V/A 129 None 0.3327 None gnomAD-4.0.0 1.5936E-06