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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
29734 1 P/L 1 rs759858087 0.5154 None gnomAD-2.1.1 4.43E-06
29734 1 P/L 1 rs759858087 0.5154 None gnomAD-3.1.2 1.31E-05
29734 1 P/L 1 rs759858087 0.5154 None gnomAD-4.0.0 1.07093E-05
29736 3 G/A 3 rs1454670479 0.2447 None gnomAD-3.1.2 6.57E-06
29736 3 G/A 3 rs1454670479 0.2447 None gnomAD-4.0.0 2.51311E-06
29736 3 G/V 3 rs1454670479 0.2447 None gnomAD-2.1.1 4.35E-06
29737 4 P/T 4 None 0.4329 None gnomAD-4.0.0 1.64725E-06
29738 5 P/S 5 None 0.1228 None gnomAD-4.0.0 4.15042E-06
29739 6 A/P 6 rs1700259287 0.2550 None gnomAD-4.0.0 1.63036E-06
29739 6 A/S 6 None 0.2550 None gnomAD-4.0.0 1.63036E-06
29740 7 K/E 7 None 0.7742 None gnomAD-4.0.0 1.20032E-06
29741 8 I/K 9 rs994680651 0.2112 None gnomAD-3.1.2 6.57E-06
29741 8 I/K 9 rs994680651 0.2112 None gnomAD-4.0.0 6.57108E-06
29741 8 I/V 9 rs751436345 0.2112 None gnomAD-2.1.1 8.41E-06
29741 8 I/V 9 rs751436345 0.2112 None gnomAD-3.1.2 6.57E-06
29741 8 I/V 9 rs751436345 0.2112 None gnomAD-4.0.0 3.74604E-06
29742 9 R/G 11 None 0.3879 None gnomAD-4.0.0 1.20032E-06
29743 10 I/T 12 rs1007947079 0.2667 None gnomAD-3.1.2 6.57E-06
29743 10 I/T 12 rs1007947079 0.2667 None gnomAD-4.0.0 5.609E-06
29743 10 I/V 12 rs1456621451 0.2667 None gnomAD-2.1.1 4.15E-06
29743 10 I/V 12 rs1456621451 0.2667 None gnomAD-4.0.0 1.61508E-06
29744 11 A/T 13 rs201592005 0.3867 None gnomAD-2.1.1 4.15E-05
29744 11 A/T 13 rs201592005 0.3867 None gnomAD-3.1.2 4.6E-05
29744 11 A/T 13 rs201592005 0.3867 None gnomAD-4.0.0 2.86767E-05
29745 12 D/E 14 None 0.4803 None gnomAD-4.0.0 1.20032E-06
29745 12 D/H 14 None 0.4803 None gnomAD-4.0.0 1.61087E-06
29746 13 S/L 15 rs1228690169 0.1216 None gnomAD-3.1.2 6.57E-06
29746 13 S/L 15 rs1228690169 0.1216 None gnomAD-4.0.0 2.58321E-06
29747 14 T/A 16 None 0.2793 None gnomAD-4.0.0 4.80129E-06
29747 14 T/S 16 rs2154152263 0.2793 None gnomAD-2.1.1 4.1885E-04
29747 14 T/S 16 rs2154152263 0.2793 None gnomAD-3.1.2 1.117E-04
29747 14 T/S 16 rs2154152263 0.2793 None 1000 genomes 5.99042E-04
29747 14 T/S 16 rs2154152263 0.2793 None gnomAD-4.0.0 6.56444E-06
29748 15 K/N 17 None 0.5220 None gnomAD-4.0.0 4.11903E-06
29748 15 K/T 17 rs2154152255 0.5220 None gnomAD-4.0.0 1.20032E-06
29751 18 I/F 20 rs1367538790 0.0839 None gnomAD-2.1.1 4.07E-06
29751 18 I/F 20 rs1367538790 0.0839 None gnomAD-4.0.0 1.59996E-06
29751 18 I/T 20 rs397517742 0.0839 None gnomAD-3.1.2 6.57E-06
29751 18 I/T 20 rs397517742 0.0839 None gnomAD-4.0.0 2.57309E-06
29751 18 I/V 20 rs1367538790 0.0839 None gnomAD-2.1.1 7.22E-06
29751 18 I/V 20 rs1367538790 0.0839 None gnomAD-3.1.2 1.31E-05
29751 18 I/V 20 rs1367538790 0.0839 None gnomAD-4.0.0 6.4333E-06
29752 19 T/A 21 rs1181316587 0.1816 None gnomAD-2.1.1 4.07E-06
29752 19 T/A 21 rs1181316587 0.1816 None gnomAD-4.0.0 1.59962E-06
29753 20 L/F 22 rs1700246631 0.1126 None gnomAD-3.1.2 6.57E-06
29753 20 L/F 22 rs1700246631 0.1126 None gnomAD-4.0.0 6.57022E-06
29753 20 L/H 22 rs369279892 0.1126 None gnomAD-2.1.1 1.62E-05
29753 20 L/H 22 rs369279892 0.1126 None gnomAD-3.1.2 1.31E-05
29753 20 L/H 22 rs369279892 0.1126 None gnomAD-4.0.0 5.14028E-06
29754 21 G/D 23 rs769191835 0.0975 None gnomAD-2.1.1 1.44E-05
29754 21 G/D 23 rs769191835 0.0975 None gnomAD-3.1.2 6.57E-06
29754 21 G/D 23 rs769191835 0.0975 None gnomAD-4.0.0 1.36477E-05
29754 21 G/R 23 rs1208704177 0.0975 None gnomAD-4.0.0 1.59529E-06
29755 22 W/C 24 None 0.1182 None gnomAD-4.0.0 2.0534E-06
29756 23 S/G 25 None 0.2394 None gnomAD-4.0.0 1.20032E-06
29756 23 S/R 25 None 0.2394 None gnomAD-4.0.0 1.59237E-06
29759 26 V/I 28 None 1.1049 None gnomAD-4.0.0 1.59199E-06
29761 28 D/G 30 None 0.2961 None gnomAD-4.0.0 6.84273E-07
29762 29 G/W 31 rs369701999 0.2472 None gnomAD-2.1.1 8.06E-06
29762 29 G/W 31 rs369701999 0.2472 None gnomAD-4.0.0 2.05285E-06
29763 30 G/V 32 None 0.5828 None gnomAD-4.0.0 1.5915E-06
29764 31 S/G 33 rs777230019 0.2989 None gnomAD-2.1.1 4.03E-06
29764 31 S/G 33 rs777230019 0.2989 None gnomAD-3.1.2 1.31E-05
29764 31 S/G 33 rs777230019 0.2989 None gnomAD-4.0.0 1.36333E-05
29764 31 S/N 33 None 0.2989 None gnomAD-4.0.0 1.59139E-06
29766 33 V/F 35 rs780822733 0.2548 None gnomAD-2.1.1 4.03E-06
29766 33 V/L 35 rs780822733 0.2548 None gnomAD-2.1.1 4.03E-06
29766 33 V/L 35 rs780822733 0.2548 None gnomAD-4.0.0 8.895E-06
29768 35 G/R 37 None 0.1378 None gnomAD-4.0.0 2.05261E-06
29769 36 Y/F 38 rs1343373479 0.1355 None gnomAD-2.1.1 4.02E-06
29769 36 Y/F 38 rs1343373479 0.1355 None gnomAD-4.0.0 1.59123E-06
29770 37 V/A 39 rs755018367 0.2561 None gnomAD-2.1.1 2.01E-05
29770 37 V/A 39 rs755018367 0.2561 None gnomAD-3.1.2 3.94E-05
29770 37 V/A 39 rs755018367 0.2561 None gnomAD-4.0.0 1.85908E-05
29772 39 E/K 41 None 0.1343 None gnomAD-2.1.1 2.394E-04
29772 39 E/K 41 None 0.1343 None gnomAD-3.1.2 2.82631E-04
29772 39 E/K 41 None 0.1343 None 1000 genomes 1.99681E-04
29772 39 E/K 41 None 0.1343 None gnomAD-4.0.0 2.80701E-04
29772 39 E/Q 41 rs200503016 0.1343 None gnomAD-3.1.2 6.57E-06
29772 39 E/Q 41 rs200503016 0.1343 None gnomAD-4.0.0 6.57281E-06
29773 40 I/L 42 rs77853750 0.1298 None gnomAD-2.1.1 3.29385E-03
29773 40 I/L 42 rs77853750 0.1298 None gnomAD-3.1.2 1.01061E-02
29773 40 I/L 42 rs77853750 0.1298 None 1000 genomes 1.05831E-02
29773 40 I/L 42 rs77853750 0.1298 None gnomAD-4.0.0 6.84197E-07
29774 41 R/K 43 rs750672440 0.1917 None gnomAD-2.1.1 3.19E-05
29774 41 R/K 43 rs750672440 0.1917 None gnomAD-3.1.2 3.29E-05
29774 41 R/K 43 rs750672440 0.1917 None gnomAD-4.0.0 6.19669E-06
29775 42 Q/H 44 None 0.3577 None gnomAD-4.0.0 1.59116E-06
29775 42 Q/R 44 None 0.3577 None gnomAD-4.0.0 1.59118E-06
29776 43 G/E 50 None 0.2841 None gnomAD-4.0.0 1.59118E-06
29779 46 E/K 63 None 0.9487 None gnomAD-4.0.0 1.59116E-06
29781 48 W/C 65 rs1385379230 0.2429 None gnomAD-2.1.1 4.02E-06
29781 48 W/C 65 rs1385379230 0.2429 None gnomAD-4.0.0 1.59114E-06
29781 48 W/R 65 rs765435839 0.2429 None gnomAD-2.1.1 4.02E-06
29781 48 W/R 65 rs765435839 0.2429 None gnomAD-3.1.2 6.57E-06
29781 48 W/R 65 rs765435839 0.2429 None gnomAD-4.0.0 1.23936E-06
29781 48 W/S 65 None 0.2429 None gnomAD-4.0.0 1.59115E-06
29782 49 T/I 66 rs1400626224 0.5600 None gnomAD-3.1.2 6.57E-06
29782 49 T/I 66 rs1400626224 0.5600 None gnomAD-4.0.0 6.57281E-06
29782 49 T/S 66 None 0.5600 None gnomAD-4.0.0 1.59114E-06
29784 51 V/D 68 rs1187385222 0.2275 None gnomAD-2.1.1 4.02E-06
29784 51 V/D 68 rs1187385222 0.2275 None gnomAD-4.0.0 3.18227E-06
29784 51 V/L 68 rs1316888674 0.2275 None gnomAD-3.1.2 6.57E-06
29784 51 V/L 68 rs1316888674 0.2275 None gnomAD-4.0.0 2.56201E-06
29785 52 S/F 69 None 0.1614 None gnomAD-4.0.0 2.40065E-06
29786 53 T/I 70 rs753966916 0.6112 None gnomAD-2.1.1 3.93E-05
29786 53 T/I 70 rs753966916 0.6112 None gnomAD-3.1.2 8.55E-05
29786 53 T/I 70 rs753966916 0.6112 None gnomAD-4.0.0 1.85911E-05
29786 53 T/S 70 None 0.6112 None gnomAD-4.0.0 2.05257E-06
29787 54 K/E 72 rs1217080477 1.1221 None gnomAD-2.1.1 1.21E-05
29787 54 K/E 72 rs1217080477 1.1221 None gnomAD-4.0.0 4.77345E-06
29787 54 K/N 72 None 1.1221 None gnomAD-4.0.0 2.40064E-06
29788 55 G/E 74 rs1700219498 0.4693 None gnomAD-3.1.2 6.57E-06
29788 55 G/E 74 rs1700219498 0.4693 None gnomAD-4.0.0 6.57203E-06
29788 55 G/R 74 rs761199633 0.4693 None gnomAD-2.1.1 4.02E-06
29788 55 G/R 74 rs761199633 0.4693 None gnomAD-4.0.0 3.18227E-06
29789 56 E/D 75 None 0.3572 None gnomAD-4.0.0 6.84189E-07
29790 57 V/I 77 rs775906983 0.1164 None gnomAD-2.1.1 2.01E-05
29790 57 V/I 77 rs775906983 0.1164 None gnomAD-4.0.0 6.84184E-06
29791 58 R/S 83 None 0.7248 None gnomAD-4.0.0 1.20032E-06
29791 58 R/T 83 rs1360436599 0.7248 None gnomAD-2.1.1 4.02E-06
29791 58 R/T 83 rs1360436599 0.7248 None gnomAD-4.0.0 3.18227E-06
29792 59 T/I 88 rs876658091 0.6136 None gnomAD-2.1.1 1.07E-05
29792 59 T/I 88 rs876658091 0.6136 None gnomAD-3.1.2 3.29E-05
29792 59 T/I 88 rs876658091 0.6136 None gnomAD-4.0.0 3.34628E-05
29794 61 E/D 90 rs1700216447 0.5400 None gnomAD-4.0.0 1.20033E-06
29796 63 V/M 92 rs72648237 0.4300 None gnomAD-2.1.1 1.18939E-03
29796 63 V/M 92 rs72648237 0.4300 None gnomAD-3.1.2 7.55704E-04
29796 63 V/M 92 rs72648237 0.4300 None 1000 genomes 9.98403E-04
29796 63 V/M 92 rs72648237 0.4300 None gnomAD-4.0.0 9.64759E-04
29797 64 V/A 93 None 0.1452 None gnomAD-4.0.0 1.59115E-06
29797 64 V/E 93 rs1431345773 0.1452 None gnomAD-2.1.1 4.02E-06
29797 64 V/E 93 rs1431345773 0.1452 None gnomAD-4.0.0 1.59115E-06
29798 65 S/A 94 rs886055232 0.4424 None gnomAD-4.0.0 2.05255E-06
29798 65 S/F 94 None 0.4424 None gnomAD-4.0.0 2.05258E-06
29798 65 S/P 94 rs886055232 0.4424 None gnomAD-2.1.1 4.02E-06
29798 65 S/P 94 rs886055232 0.4424 None gnomAD-4.0.0 6.84185E-07
29798 65 S/Y 94 rs1344691856 0.4424 None gnomAD-2.1.1 4.02E-06
29798 65 S/Y 94 rs1344691856 0.4424 None gnomAD-4.0.0 3.42096E-06
29799 66 N/H 96 None 0.8760 None gnomAD-4.0.0 1.20046E-06
29799 66 N/S 96 None 0.8760 None gnomAD-4.0.0 1.20032E-06
29799 66 N/T 96 rs371949055 0.8760 None gnomAD-2.1.1 6.37E-05
29799 66 N/T 96 rs371949055 0.8760 None gnomAD-3.1.2 1.31E-05
29799 66 N/T 96 rs371949055 0.8760 None gnomAD-4.0.0 1.31413E-05
29802 69 P/H 99 rs769366983 0.5436 None gnomAD-2.1.1 1.61E-05
29802 69 P/H 99 rs769366983 0.5436 None gnomAD-4.0.0 7.52613E-06
29802 69 P/L 99 rs769366983 0.5436 None gnomAD-4.0.0 6.84194E-07
29802 69 P/R 99 None 0.5436 None gnomAD-4.0.0 6.84194E-07
29802 69 P/S 99 rs1301048848 0.5436 None gnomAD-2.1.1 4.02E-06
29802 69 P/S 99 rs1301048848 0.5436 None gnomAD-4.0.0 2.05256E-06
29802 69 P/T 99 None 0.5436 None gnomAD-4.0.0 6.84187E-07
29803 70 G/E 100 rs1264984362 0.4057 None gnomAD-3.1.2 6.57E-06
29803 70 G/E 100 rs1264984362 0.4057 None gnomAD-4.0.0 6.57056E-06
29803 70 G/V 100 rs1264984362 0.4057 None gnomAD-3.1.2 6.57E-06
29803 70 G/V 100 rs1264984362 0.4057 None gnomAD-4.0.0 1.23933E-06
29804 71 V/A 102 rs776305807 0.1982 None gnomAD-2.1.1 1.21E-05
29804 71 V/A 102 rs776305807 0.1982 None gnomAD-4.0.0 2.05259E-06
29804 71 V/G 102 rs776305807 0.1982 None gnomAD-4.0.0 2.73679E-06
29804 71 V/I 102 rs747784568 0.1982 None gnomAD-2.1.1 2.41E-05
29804 71 V/I 102 rs747784568 0.1982 None gnomAD-4.0.0 1.71049E-05
29805 72 N/S 103 rs369285180 0.4672 None gnomAD-2.1.1 1.61E-05
29805 72 N/S 103 rs369285180 0.4672 None gnomAD-3.1.2 3.28E-05
29805 72 N/S 103 rs369285180 0.4672 None gnomAD-4.0.0 1.04102E-04
29806 73 Y/D 104 rs982322225 0.1003 None gnomAD-2.1.1 4.02E-06
29806 73 Y/D 104 rs982322225 0.1003 None gnomAD-4.0.0 1.59115E-06
29807 74 Y/C 105 None 0.2669 None gnomAD-4.0.0 2.05259E-06
29807 74 Y/S 105 None 0.2669 None gnomAD-4.0.0 6.84196E-07
29809 76 R/Q 107 rs72648238 0.1342 None gnomAD-2.1.1 6.42926E-04
29809 76 R/Q 107 rs72648238 0.1342 None gnomAD-3.1.2 8.01777E-04
29809 76 R/Q 107 rs72648238 0.1342 None 1000 genomes 1.99681E-04
29809 76 R/Q 107 rs72648238 0.1342 None gnomAD-4.0.0 7.98096E-04
29809 76 R/W 107 rs112777680 0.1342 None gnomAD-3.1.2 6.57E-06
29809 76 R/W 107 rs112777680 0.1342 None gnomAD-4.0.0 1.30137E-05
29810 77 V/I 108 rs745716789 0.0879 None gnomAD-2.1.1 4.02E-06
29810 77 V/I 108 rs745716789 0.0879 None gnomAD-4.0.0 1.59117E-06
29812 79 A/P 110 None 0.0879 None gnomAD-4.0.0 1.59118E-06
29812 79 A/V 110 None 0.0879 None gnomAD-4.0.0 3.60097E-06
29813 80 V/L 111 None 0.1909 None gnomAD-4.0.0 1.59116E-06
29816 83 A/T 114 rs1202640947 0.5278 None gnomAD-2.1.1 4.02E-06
29816 83 A/T 114 rs1202640947 0.5278 None gnomAD-4.0.0 4.77377E-06
29817 84 G/A 115 rs778747498 0.2303 None gnomAD-3.1.2 6.57E-06
29817 84 G/A 115 rs778747498 0.2303 None gnomAD-4.0.0 6.56987E-06
29817 84 G/E 115 rs778747498 0.2303 None gnomAD-2.1.1 4.02E-06
29817 84 G/E 115 rs778747498 0.2303 None gnomAD-4.0.0 1.36844E-06
29818 85 Q/K 117 None 0.4520 None gnomAD-4.0.0 1.59127E-06
29820 87 E/K 119 rs1700193837 0.6403 None gnomAD-4.0.0 2.0528E-06
29821 88 P/A 120 rs1469989307 0.2803 None gnomAD-3.1.2 6.57E-06
29821 88 P/A 120 rs1469989307 0.2803 None gnomAD-4.0.0 6.57177E-06
29821 88 P/S 120 None 0.2803 None gnomAD-4.0.0 1.20032E-06
29822 89 I/M 121 rs754018369 0.1601 None gnomAD-2.1.1 4.03E-06
29822 89 I/M 121 rs754018369 0.1601 None gnomAD-4.0.0 1.59175E-06
29822 89 I/T 121 None 0.1601 None gnomAD-4.0.0 2.73721E-06
29822 89 I/V 121 None 0.1601 None gnomAD-4.0.0 1.20032E-06
29824 91 M/R 123 rs764161774 0.2060 None gnomAD-2.1.1 8.06E-06
29824 91 M/R 123 rs764161774 0.2060 None gnomAD-4.0.0 8.2129E-06
29824 91 M/T 123 None 0.2060 None gnomAD-4.0.0 6.84408E-07
29825 92 N/S 124 None 1.0143 None gnomAD-4.0.0 1.59243E-06
29826 93 E/V 125 rs1345868585 0.8469 None gnomAD-2.1.1 4.03E-06
29826 93 E/V 125 rs1345868585 0.8469 None gnomAD-4.0.0 1.59277E-06
29827 94 P/H 126 rs1432117509 0.3453 None gnomAD-3.1.2 1.31E-05
29827 94 P/H 126 rs1432117509 0.3453 None gnomAD-4.0.0 1.85987E-06
29827 94 P/R 126 None 0.3453 None gnomAD-4.0.0 6.84555E-07
29827 94 P/S 126 None 0.3453 None gnomAD-4.0.0 6.8452E-07
29827 94 P/T 126 rs201620815 0.3453 None gnomAD-2.1.1 2.25969E-04
29827 94 P/T 126 rs201620815 0.3453 None gnomAD-3.1.2 5.26E-05
29827 94 P/T 126 rs201620815 0.3453 None 1000 genomes 1.99681E-04
29827 94 P/T 126 rs201620815 0.3453 None gnomAD-4.0.0 9.29844E-05
29828 95 V/I 127 None 0.2301 None gnomAD-4.0.0 1.20033E-06
29829 96 Q/E 129 None 0.3811 None gnomAD-4.0.0 6.84816E-07
29829 96 Q/H 129 rs1700184989 0.3811 None gnomAD-3.1.2 6.57E-06
29829 96 Q/H 129 rs1700184989 0.3811 None gnomAD-4.0.0 1.20033E-06
29829 96 Q/K 129 rs1700185971 0.3811 None gnomAD-3.1.2 6.57E-06
29829 96 Q/K 129 rs1700185971 0.3811 None gnomAD-4.0.0 1.24034E-06
29830 97 A/T 130 rs183476312 0.1013 None gnomAD-2.1.1 4.06E-06
29830 97 A/T 130 rs183476312 0.1013 None 1000 genomes 1.99681E-04
29831 98 K/E 131 rs774632104 0.5926 None gnomAD-2.1.1 3.25E-05
29831 98 K/E 131 rs774632104 0.5926 None gnomAD-3.1.2 4.6E-05
29831 98 K/E 131 rs774632104 0.5926 None gnomAD-4.0.0 6.39671E-05
29831 98 K/T 131 rs1404072291 0.5926 None gnomAD-3.1.2 1.31E-05
29831 98 K/T 131 rs1404072291 0.5926 None gnomAD-4.0.0 5.14775E-06