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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
18784 1 R/C 1 rs774740211 0.6393 None gnomAD-2.1.1 5.61E-06
18784 1 R/C 1 rs774740211 0.6393 None gnomAD-4.0.0 5.11012E-06
18784 1 R/H 1 rs771284532 0.6393 None gnomAD-2.1.1 6.97E-05
18784 1 R/H 1 rs771284532 0.6393 None gnomAD-3.1.2 4.61E-05
18784 1 R/H 1 rs771284532 0.6393 None gnomAD-4.0.0 4.97203E-05
18785 2 P/L 2 None 0.1286 None gnomAD-4.0.0 7.24949E-07
18785 2 P/R 2 rs749655114 0.1286 None gnomAD-2.1.1 2.16E-05
18785 2 P/R 2 rs749655114 0.1286 None gnomAD-3.1.2 1.97E-05
18785 2 P/R 2 rs749655114 0.1286 None gnomAD-4.0.0 1.37128E-05
18787 4 P/L 4 None 0.3663 None gnomAD-4.0.0 7.24553E-07
18787 4 P/R 4 rs1227865413 0.3663 None gnomAD-2.1.1 5.38E-06
18787 4 P/R 4 rs1227865413 0.3663 None gnomAD-4.0.0 2.17366E-06
18787 4 P/S 4 None 0.3663 None gnomAD-4.0.0 1.82357E-06
18788 5 P/S 5 rs1363268909 0.1075 None gnomAD-2.1.1 5.24E-06
18788 5 P/S 5 rs1363268909 0.1075 None gnomAD-4.0.0 7.18732E-06
18789 6 V/A 6 rs377635048 0.3107 None gnomAD-2.1.1 8.85E-06
18789 6 V/A 6 rs377635048 0.3107 None gnomAD-3.1.2 3.29E-05
18789 6 V/A 6 rs377635048 0.3107 None gnomAD-4.0.0 8.40602E-06
18789 6 V/G 6 None 0.3107 None gnomAD-4.0.0 7.17141E-07
18789 6 V/M 6 None 0.3107 None gnomAD-4.0.0 7.17812E-07
18790 7 G/R 7 rs768353681 0.4333 None gnomAD-2.1.1 5.15E-06
18790 7 G/R 7 rs768353681 0.4333 None gnomAD-4.0.0 7.18281E-07
18792 9 I/M 9 rs794729241 0.1397 None gnomAD-3.1.2 6.58E-06
18792 9 I/M 9 rs794729241 0.1397 None gnomAD-4.0.0 3.85881E-06
18792 9 I/T 9 rs779588814 0.1397 None gnomAD-2.1.1 4.98E-06
18792 9 I/T 9 rs779588814 0.1397 None gnomAD-4.0.0 1.42637E-06
18793 10 K/Q 11 None 0.5603 None gnomAD-4.0.0 7.12718E-07
18793 10 K/R 11 rs570125605 0.5603 None gnomAD-3.1.2 6.58E-06
18793 10 K/R 11 rs570125605 0.5603 None 1000 genomes 1.99681E-04
18793 10 K/R 11 rs570125605 0.5603 None gnomAD-4.0.0 6.57134E-06
18794 11 F/V 12 rs757869355 0.2847 None gnomAD-2.1.1 4.94E-06
18794 11 F/Y 12 rs750336579 0.2847 None gnomAD-2.1.1 4.92E-06
18797 14 V/I 15 rs778722684 0.3037 None gnomAD-2.1.1 1.44E-05
18797 14 V/I 15 rs778722684 0.3037 None gnomAD-3.1.2 6.58E-06
18797 14 V/I 15 rs778722684 0.3037 None gnomAD-4.0.0 1.09231E-05
18798 15 S/L 16 rs2052673581 0.1489 None gnomAD-3.1.2 6.58E-06
18798 15 S/L 16 rs2052673581 0.1489 None gnomAD-4.0.0 6.57678E-06
18799 16 A/T 17 rs757022353 0.1141 None gnomAD-2.1.1 4.92E-05
18799 16 A/T 17 rs757022353 0.1141 None gnomAD-3.1.2 2.63E-05
18799 16 A/T 17 rs757022353 0.1141 None gnomAD-4.0.0 1.0833E-05
18799 16 A/V 17 rs753746652 0.1141 None gnomAD-2.1.1 4.7E-06
18799 16 A/V 17 rs753746652 0.1141 None gnomAD-4.0.0 3.42313E-06
18800 17 D/Y 18 rs764411398 0.4910 None gnomAD-2.1.1 1.85E-05
18800 17 D/Y 18 rs764411398 0.4910 None gnomAD-4.0.0 1.69422E-06
18801 18 Q/H 19 None 0.4083 None gnomAD-4.0.0 6.96302E-07
18802 19 M/I 20 rs2052669056 0.0724 None gnomAD-3.1.2 6.58E-06
18802 19 M/I 20 rs2052669056 0.0724 None gnomAD-4.0.0 6.95705E-07
18802 19 M/T 20 rs541240948 0.0724 None gnomAD-4.0.0 1.65458E-06
18802 19 M/V 20 None 0.0724 None gnomAD-4.0.0 1.20032E-06
18804 21 L/P 22 None 0.0977 None gnomAD-4.0.0 1.64312E-06
18805 22 S/C 23 rs759563590 0.1705 None gnomAD-2.1.1 4.36E-06
18805 22 S/C 23 rs759563590 0.1705 None gnomAD-4.0.0 1.63838E-06
18805 22 S/F 23 rs759563590 0.1705 None gnomAD-3.1.2 6.58E-06
18805 22 S/F 23 rs759563590 0.1705 None gnomAD-4.0.0 6.57575E-06
18805 22 S/P 23 rs767581453 0.1705 None gnomAD-2.1.1 1.75E-05
18805 22 S/P 23 rs767581453 0.1705 None gnomAD-3.1.2 6.58E-06
18805 22 S/P 23 rs767581453 0.1705 None gnomAD-4.0.0 1.44338E-05
18805 22 S/Y 23 None 0.1705 None gnomAD-4.0.0 1.63838E-06
18806 23 W/C 24 rs1042225014 0.1061 None gnomAD-2.1.1 4.34E-06
18806 23 W/C 24 rs1042225014 0.1061 None gnomAD-4.0.0 1.63607E-06
18806 23 W/L 24 None 0.1061 None gnomAD-4.0.0 6.92739E-07
18807 24 F/L 25 rs2052666305 0.7021 None gnomAD-4.0.0 1.38371E-06
18808 25 P/L 26 rs2052664825 0.4421 None gnomAD-3.1.2 6.58E-06
18808 25 P/L 26 rs2052664825 0.4421 None gnomAD-4.0.0 8.12491E-06
18808 25 P/S 26 rs139748528 0.4421 None gnomAD-2.1.1 1.72E-05
18808 25 P/S 26 rs139748528 0.4421 None gnomAD-3.1.2 1.32E-05
18808 25 P/S 26 rs139748528 0.4421 None 1000 genomes 3.99361E-04
18808 25 P/S 26 rs139748528 0.4421 None gnomAD-4.0.0 8.12465E-06
18809 26 P/H 27 None 0.1607 None gnomAD-4.0.0 1.20032E-06
18809 26 P/S 27 None 0.1607 None gnomAD-4.0.0 2.40064E-06
18809 26 P/T 27 None 0.1607 None gnomAD-4.0.0 3.60097E-06
18811 28 D/G 29 None 0.6112 None gnomAD-4.0.0 1.61786E-06
18811 28 D/N 29 rs2052663852 0.6112 None gnomAD-3.1.2 6.58E-06
18811 28 D/N 29 rs2052663852 0.6112 None gnomAD-4.0.0 3.12002E-06
18812 29 D/N 30 None 0.2808 None gnomAD-4.0.0 6.88294E-07
18816 33 K/R 34 None 0.8000 None gnomAD-4.0.0 1.60469E-06
18818 35 T/K 36 rs945270235 0.3084 None gnomAD-2.1.1 4.1E-06
18818 35 T/K 36 rs945270235 0.3084 None gnomAD-4.0.0 1.60193E-06
18819 36 N/K 37 rs1274184250 0.1477 None gnomAD-2.1.1 1.22E-05
18819 36 N/K 37 rs1274184250 0.1477 None gnomAD-4.0.0 4.801E-06
18819 36 N/S 37 rs201337786 0.1477 None gnomAD-2.1.1 6.9E-05
18819 36 N/S 37 rs201337786 0.1477 None gnomAD-3.1.2 1.25046E-04
18819 36 N/S 37 rs201337786 0.1477 None gnomAD-4.0.0 2.67163E-05
18820 37 Y/H 38 rs2052657245 0.1046 None gnomAD-4.0.0 1.60022E-06
18821 38 V/I 39 rs1576247575 0.1434 None gnomAD-3.1.2 6.58E-06
18821 38 V/I 39 rs1576247575 0.1434 None gnomAD-4.0.0 1.17994E-05
18822 39 I/T 40 rs771542159 0.0753 None gnomAD-2.1.1 4.07E-06
18822 39 I/T 40 rs771542159 0.0753 None gnomAD-4.0.0 5.48643E-06
18822 39 I/V 40 None 0.0753 None gnomAD-4.0.0 1.20032E-06
18823 40 E/K 41 rs745380159 0.1912 None gnomAD-2.1.1 7.22E-06
18823 40 E/K 41 rs745380159 0.1912 None gnomAD-3.1.2 6.58E-06
18823 40 E/K 41 rs745380159 0.1912 None gnomAD-4.0.0 1.02963E-05
18825 42 R/K 43 None 0.2324 None gnomAD-4.0.0 6.85839E-07
18825 42 R/T 43 None 0.2324 None gnomAD-4.0.0 2.05752E-06
18827 44 A/S 50 rs1280578786 0.3147 None gnomAD-2.1.1 3.19E-05
18827 44 A/S 50 rs1280578786 0.3147 None gnomAD-3.1.2 1.32E-05
18827 44 A/S 50 rs1280578786 0.3147 None gnomAD-4.0.0 1.31591E-05
18827 44 A/T 50 rs1280578786 0.3147 None gnomAD-4.0.0 1.37184E-06
18827 44 A/V 50 None 0.3147 None gnomAD-4.0.0 4.8012E-06
18828 45 N/D 54 None 0.7801 None gnomAD-4.0.0 3.60097E-06
18828 45 N/T 54 rs71423569 0.7801 None gnomAD-4.0.0 6.85974E-07
18829 46 R/G 60 None 0.4852 None gnomAD-4.0.0 6.85993E-07
18829 46 R/K 60 rs1056753359 0.4852 None gnomAD-4.0.0 1.60175E-06
18830 47 K/N 63 rs1004119141 1.0005 None gnomAD-3.1.2 6.58E-06
18830 47 K/N 63 rs1004119141 1.0005 None gnomAD-4.0.0 2.57737E-06
18831 48 T/A 64 None 0.7201 None gnomAD-4.0.0 6.86315E-07
18831 48 T/S 64 rs778893070 0.7201 None gnomAD-2.1.1 4.09E-06
18831 48 T/S 64 rs778893070 0.7201 None gnomAD-4.0.0 6.86315E-07
18832 49 W/R 65 rs902705564 0.2531 None gnomAD-3.1.2 6.58E-06
18832 49 W/R 65 rs902705564 0.2531 None gnomAD-4.0.0 6.57912E-06
18833 50 V/I 66 rs1553665072 0.4738 None gnomAD-4.0.0 1.6052E-06
18834 51 H/N 67 None 0.4055 None gnomAD-4.0.0 1.60852E-06
18836 53 S/F 69 None 0.1245 None gnomAD-4.0.0 1.61964E-06
18837 54 S/G 70 None 0.3047 None gnomAD-4.0.0 1.37886E-06
18839 56 P/A 77 rs1368373679 0.1430 None gnomAD-4.0.0 1.38103E-06
18839 56 P/L 77 rs1170043972 0.1430 None gnomAD-2.1.1 4.24E-06
18839 56 P/L 77 rs1170043972 0.1430 None gnomAD-4.0.0 3.45487E-06
18840 57 K/R 83 rs757205392 0.7208 None gnomAD-2.1.1 4.29E-06
18840 57 K/T 83 rs757205392 0.7208 None gnomAD-2.1.1 4.29E-06
18840 57 K/T 83 rs757205392 0.7208 None gnomAD-4.0.0 1.63469E-06
18841 58 E/K 88 rs376621189 0.8025 None gnomAD-2.1.1 4.3E-06
18841 58 E/K 88 rs376621189 0.8025 None gnomAD-3.1.2 1.32E-05
18841 58 E/K 88 rs376621189 0.8025 None gnomAD-4.0.0 2.50656E-06
18842 59 C/G 89 None 0.1068 None gnomAD-4.0.0 6.9777E-07
18842 59 C/R 89 rs371437953 0.1068 None gnomAD-2.1.1 8.95E-06
18842 59 C/R 89 rs371437953 0.1068 None gnomAD-3.1.2 6.59E-06
18842 59 C/R 89 rs371437953 0.1068 None gnomAD-4.0.0 1.893E-06
18842 59 C/Y 89 None 0.1068 None gnomAD-4.0.0 6.97818E-07
18843 60 T/K 90 None 0.3845 None gnomAD-2.1.1 9.02E-06
18843 60 T/K 90 None 0.3845 None gnomAD-3.1.2 1.32E-05
18843 60 T/K 90 None 0.3845 None gnomAD-4.0.0 2.52535E-06
18843 60 T/M 90 rs755999830 0.3845 None gnomAD-2.1.1 2.25E-05
18843 60 T/M 90 rs755999830 0.3845 None gnomAD-4.0.0 9.07816E-06
18843 60 T/R 90 rs755999830 0.3845 None gnomAD-2.1.1 4.51E-06
18843 60 T/R 90 rs755999830 0.3845 None gnomAD-4.0.0 1.39664E-06
18845 62 T/M 92 rs371571153 0.2909 None gnomAD-2.1.1 5.71E-05
18845 62 T/M 92 rs371571153 0.2909 None gnomAD-3.1.2 5.26E-05
18845 62 T/M 92 rs371571153 0.2909 None 1000 genomes 1.99681E-04
18845 62 T/M 92 rs371571153 0.2909 None gnomAD-4.0.0 2.66673E-05
18845 62 T/P 92 rs375000725 0.2909 None gnomAD-2.1.1 7.71E-05
18845 62 T/P 92 rs375000725 0.2909 None gnomAD-3.1.2 7.24E-05
18845 62 T/P 92 rs375000725 0.2909 None gnomAD-4.0.0 4.50264E-05
18846 63 I/T 93 rs766906652 0.0958 None gnomAD-2.1.1 1.46E-05
18846 63 I/T 93 rs766906652 0.0958 None gnomAD-3.1.2 1.97E-05
18846 63 I/T 93 rs766906652 0.0958 None gnomAD-4.0.0 2.17298E-05
18847 64 P/A 94 None 0.4099 None gnomAD-4.0.0 1.41796E-06
18847 64 P/H 94 None 0.4099 None gnomAD-4.0.0 1.73601E-06
18847 64 P/S 94 rs763491342 0.4099 None gnomAD-2.1.1 9.82E-06
18847 64 P/S 94 rs763491342 0.4099 None gnomAD-4.0.0 1.41796E-06
18848 65 K/E 96 rs2052641171 0.8624 None gnomAD-3.1.2 6.58E-06
18848 65 K/E 96 rs2052641171 0.8624 None gnomAD-4.0.0 6.57765E-06
18848 65 K/R 96 rs879138127 0.8624 None gnomAD-3.1.2 6.58E-06
18848 65 K/R 96 rs879138127 0.8624 None gnomAD-4.0.0 6.57843E-06
18850 67 L/P 98 None 0.5683 None gnomAD-4.0.0 1.75332E-06
18851 68 E/D 99 None 0.4741 None gnomAD-4.0.0 1.75616E-06
18851 68 E/Q 99 rs1347369638 0.4741 None gnomAD-4.0.0 7.12769E-07
18852 69 G/V 100 rs1283827826 0.3978 None gnomAD-2.1.1 1.5E-05
18852 69 G/V 100 rs1283827826 0.3978 None gnomAD-4.0.0 5.29891E-06
18853 70 H/R 102 rs1348351926 0.3658 None gnomAD-2.1.1 5.06E-06
18853 70 H/R 102 rs1348351926 0.3658 None gnomAD-4.0.0 1.7729E-06
18853 70 H/Y 102 rs397517623 0.3658 None gnomAD-2.1.1 2.53E-05
18853 70 H/Y 102 rs397517623 0.3658 None gnomAD-3.1.2 2.63E-05
18853 70 H/Y 102 rs397517623 0.3658 None gnomAD-4.0.0 2.23496E-05
18854 71 E/V 103 None 0.3471 None gnomAD-4.0.0 1.43365E-06
18855 72 Y/C 104 None 0.0956 None gnomAD-4.0.0 1.80287E-06
18856 73 V/A 105 rs762168752 0.1161 None gnomAD-2.1.1 5.24E-06
18856 73 V/A 105 rs762168752 0.1161 None gnomAD-3.1.2 1.97E-05
18856 73 V/A 105 rs762168752 0.1161 None gnomAD-4.0.0 5.66852E-06
18857 74 F/C 106 None 0.0975 None gnomAD-4.0.0 1.44558E-06
18857 74 F/L 106 rs771676699 0.0975 None gnomAD-2.1.1 5.29E-06
18857 74 F/L 106 rs771676699 0.0975 None gnomAD-3.1.2 6.58E-06
18857 74 F/L 106 rs771676699 0.0975 None gnomAD-4.0.0 1.44732E-06
18857 74 F/S 106 None 0.0975 None gnomAD-4.0.0 7.22788E-07
18858 75 R/Q 107 rs755848019 0.1347 None gnomAD-2.1.1 5.42E-05
18858 75 R/Q 107 rs755848019 0.1347 None gnomAD-3.1.2 2.63E-05
18858 75 R/Q 107 rs755848019 0.1347 None gnomAD-4.0.0 6.93293E-05
18859 76 I/V 108 None 0.0681 None gnomAD-4.0.0 1.83678E-06
18860 77 M/T 109 rs1384923019 0.1084 None gnomAD-3.1.2 6.58E-06
18860 77 M/T 109 rs1384923019 0.1084 None gnomAD-4.0.0 2.62433E-06
18861 78 A/S 110 None 0.0926 None gnomAD-4.0.0 7.29651E-07
18861 78 A/T 110 rs368419410 0.0926 None gnomAD-2.1.1 4.73E-05
18861 78 A/T 110 rs368419410 0.0926 None gnomAD-3.1.2 3.95E-05
18861 78 A/T 110 rs368419410 0.0926 None gnomAD-4.0.0 5.71407E-05
18862 79 Q/H 111 None 0.2328 None gnomAD-4.0.0 7.30315E-07
18863 80 N/D 112 rs2052631045 0.0974 None gnomAD-3.1.2 6.58E-06
18863 80 N/S 112 None 0.0974 None gnomAD-4.0.0 1.86331E-06
18865 82 Y/C 114 None 0.5819 None gnomAD-4.0.0 6.59717E-06
18865 82 Y/F 114 None 0.5819 None gnomAD-4.0.0 7.33019E-07
18865 82 Y/H 114 rs749192204 0.5819 None gnomAD-2.1.1 5.68E-06
18865 82 Y/H 114 rs749192204 0.5819 None gnomAD-4.0.0 5.86489E-06
18866 83 G/C 115 None 0.1720 None gnomAD-4.0.0 1.89314E-06
18866 83 G/D 115 None 0.1720 None gnomAD-4.0.0 1.89259E-06
18867 84 I/F 117 None 0.3982 None gnomAD-4.0.0 1.89446E-06
18867 84 I/T 117 rs1178126114 0.3982 None gnomAD-2.1.1 5.75E-06
18867 84 I/T 117 rs1178126114 0.3982 None gnomAD-4.0.0 1.89454E-06
18869 86 E/K 119 None 0.6326 None gnomAD-4.0.0 3.68E-06
18870 87 P/H 120 rs755909878 0.3266 None gnomAD-2.1.1 1.74E-05
18870 87 P/H 120 rs755909878 0.3266 None gnomAD-4.0.0 5.70386E-06
18870 87 P/L 120 rs755909878 0.3266 None gnomAD-2.1.1 5.8E-06
18870 87 P/L 120 rs755909878 0.3266 None gnomAD-3.1.2 6.58E-06
18870 87 P/L 120 rs755909878 0.3266 None gnomAD-4.0.0 2.94974E-06
18872 89 D/N 122 rs747911018 0.3382 None gnomAD-2.1.1 4.05E-05
18872 89 D/N 122 rs747911018 0.3382 None gnomAD-3.1.2 1.97E-05
18872 89 D/N 122 rs747911018 0.3382 None gnomAD-4.0.0 1.25722E-05
18873 90 S/G 123 rs1212401338 0.1441 None gnomAD-2.1.1 1.17E-05
18873 90 S/G 123 rs1212401338 0.1441 None gnomAD-3.1.2 6.57E-06
18873 90 S/G 123 rs1212401338 0.1441 None gnomAD-4.0.0 2.65483E-06
18873 90 S/N 123 rs2154191135 0.1441 None gnomAD-3.1.2 6.58E-06
18874 91 E/D 125 None 0.6825 None gnomAD-4.0.0 1.47445E-06
18874 91 E/K 125 rs781465190 0.6825 None gnomAD-2.1.1 5.87E-06
18874 91 E/K 125 rs781465190 0.6825 None gnomAD-4.0.0 7.38197E-07
18874 91 E/Q 125 None 0.6825 None gnomAD-4.0.0 7.38197E-07
18875 92 P/S 126 None 0.3920 None gnomAD-4.0.0 7.38521E-07
18875 92 P/T 126 None 0.3920 None gnomAD-4.0.0 7.38521E-07
18876 93 E/G 127 rs2052624292 0.2289 None gnomAD-3.1.2 6.57E-06
18876 93 E/G 127 rs2052624292 0.2289 None gnomAD-4.0.0 6.57419E-06
18876 93 E/K 127 rs919241154 0.2289 None gnomAD-4.0.0 3.69056E-06
18877 94 T/R 128 rs755224119 0.2813 None gnomAD-2.1.1 5.88E-06
18877 94 T/R 128 rs755224119 0.2813 None gnomAD-3.1.2 6.58E-06
18877 94 T/R 128 rs755224119 0.2813 None gnomAD-4.0.0 2.97642E-06
18878 95 A/T 130 rs886042564 0.0674 None gnomAD-3.1.2 6.58E-06
18878 95 A/T 130 rs886042564 0.0674 None gnomAD-4.0.0 5.97801E-06
18878 95 A/V 130 rs751627987 0.0674 None gnomAD-2.1.1 1.18E-05
18878 95 A/V 130 rs751627987 0.0674 None gnomAD-4.0.0 3.6938E-06
18880 97 N/K 132 rs200544272 0.6348 None gnomAD-2.1.1 6.96E-05
18880 97 N/K 132 rs200544272 0.6348 None gnomAD-3.1.2 1.05277E-04
18880 97 N/K 132 rs200544272 0.6348 None gnomAD-4.0.0 1.72725E-05
18880 97 N/S 132 rs1391726501 0.6348 None gnomAD-2.1.1 5.95E-05
18880 97 N/S 132 rs1391726501 0.6348 None gnomAD-3.1.2 6.58E-05
18880 97 N/S 132 rs1391726501 0.6348 None gnomAD-4.0.0 2.22597E-05