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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
22842 2 I/N 2 None 0.1172 None gnomAD-4.0.0 6.85234E-07
22842 2 I/T 2 rs368301580 0.1172 None gnomAD-2.1.1 1.22E-05
22842 2 I/T 2 rs368301580 0.1172 None gnomAD-3.1.2 2.63E-05
22842 2 I/T 2 rs368301580 0.1172 None gnomAD-4.0.0 1.79961E-05
22842 2 I/V 2 None 0.1172 None gnomAD-4.0.0 1.37046E-06
22844 4 P/T 4 None 0.3838 None gnomAD-4.0.0 1.39938E-06
22846 6 G/A 6 rs757698964 0.2370 None gnomAD-2.1.1 4.5E-06
22846 6 G/A 6 rs757698964 0.2370 None gnomAD-3.1.2 6.58E-06
22846 6 G/A 6 rs757698964 0.2370 None gnomAD-4.0.0 6.57575E-06
22847 7 K/N 7 rs1051353080 0.4193 None gnomAD-4.0.0 1.20032E-06
22849 9 E/K 11 None 0.7215 None gnomAD-4.0.0 1.3967E-06
22850 10 V/F 12 rs934106303 0.3470 None gnomAD-4.0.0 1.6628E-06
22851 11 I/T 13 None 0.4544 None gnomAD-4.0.0 1.20032E-06
22851 11 I/V 13 None 0.4544 None gnomAD-4.0.0 1.66115E-06
22852 12 N/K 14 rs780727295 0.5144 None gnomAD-2.1.1 1.74E-05
22852 12 N/K 14 rs780727295 0.5144 None gnomAD-4.0.0 3.3017E-06
22853 13 I/L 15 None 0.2277 None gnomAD-4.0.0 1.20032E-06
22854 14 T/R 16 rs2046780936 0.2229 None gnomAD-4.0.0 1.64253E-06
22855 15 R/K 17 None 0.3861 None gnomAD-4.0.0 1.64144E-06
22860 20 L/I 22 rs754466645 0.1066 None gnomAD-2.1.1 4.2E-06
22860 20 L/I 22 rs754466645 0.1066 None gnomAD-4.0.0 1.58807E-05
22860 20 L/P 22 rs751068065 0.1066 None gnomAD-2.1.1 4.21E-06
22860 20 L/P 22 rs751068065 0.1066 None gnomAD-4.0.0 1.20032E-06
22861 21 I/L 23 rs1575838768 0.4098 None gnomAD-3.1.2 6.57E-06
22861 21 I/L 23 rs1575838768 0.4098 None gnomAD-4.0.0 6.57393E-06
22861 21 I/T 23 None 0.4098 None gnomAD-4.0.0 1.20032E-06
22863 23 T/N 25 None 0.6797 None gnomAD-4.0.0 6.88269E-07
22863 23 T/S 25 None 0.6797 None gnomAD-4.0.0 4.81741E-06
22865 25 P/H 27 None 0.1742 None gnomAD-4.0.0 1.60057E-06
22865 25 P/L 27 rs1327514162 0.1742 None gnomAD-2.1.1 4.08E-06
22865 25 P/L 27 rs1327514162 0.1742 None gnomAD-4.0.0 6.40229E-06
22867 27 Y/F 29 rs1397080164 0.4507 None gnomAD-2.1.1 4.07E-06
22867 27 Y/F 29 rs1397080164 0.4507 None gnomAD-4.0.0 1.59732E-06
22867 27 Y/H 29 rs368484355 0.4507 None gnomAD-2.1.1 1.08E-05
22867 27 Y/H 29 rs368484355 0.4507 None gnomAD-3.1.2 3.29E-05
22867 27 Y/H 29 rs368484355 0.4507 None gnomAD-4.0.0 1.86229E-05
22868 28 D/E 30 rs750368181 0.2348 None gnomAD-2.1.1 4.06E-06
22868 28 D/E 30 rs750368181 0.2348 None gnomAD-4.0.0 6.85305E-07
22869 29 G/D 31 None 0.1867 None gnomAD-4.0.0 1.20046E-06
22869 29 G/R 31 rs876658078 0.1867 None gnomAD-2.1.1 4.06E-06
22869 29 G/R 31 rs876658078 0.1867 None gnomAD-4.0.0 1.37057E-06
22869 29 G/S 31 rs876658078 0.1867 None gnomAD-2.1.1 1.08E-05
22869 29 G/S 31 rs876658078 0.1867 None gnomAD-3.1.2 7.89E-05
22869 29 G/S 31 rs876658078 0.1867 None gnomAD-4.0.0 1.55157E-05
22870 30 G/A 32 None 0.3801 None gnomAD-4.0.0 1.37005E-06
22871 31 H/L 33 rs761622490 0.5106 None gnomAD-2.1.1 1.62E-05
22871 31 H/L 33 rs761622490 0.5106 None gnomAD-4.0.0 4.7847E-06
22871 31 H/R 33 rs761622490 0.5106 None gnomAD-2.1.1 4.05E-06
22871 31 H/R 33 rs761622490 0.5106 None gnomAD-4.0.0 3.1898E-06
22872 32 K/E 34 None 0.7480 None gnomAD-4.0.0 1.59481E-06
22875 35 G/E 37 None 0.1136 None gnomAD-4.0.0 1.20033E-06
22877 37 I/M 39 rs776873491 0.2612 None gnomAD-2.1.1 4.04E-06
22877 37 I/M 39 rs776873491 0.2612 None gnomAD-4.0.0 1.59314E-06
22877 37 I/V 39 rs879104670 0.2612 None gnomAD-3.1.2 1.99E-05
22877 37 I/V 39 rs879104670 0.2612 None gnomAD-4.0.0 6.20401E-06
22878 38 V/A 40 None 0.0989 None gnomAD-4.0.0 6.84482E-07
22878 38 V/M 40 rs764263517 0.0989 None gnomAD-2.1.1 1.09121E-04
22878 38 V/M 40 rs764263517 0.0989 None gnomAD-3.1.2 1.97E-05
22878 38 V/M 40 rs764263517 0.0989 None gnomAD-4.0.0 4.2785E-05
22879 39 E/K 41 rs373765319 0.1211 None gnomAD-2.1.1 8.08E-06
22879 39 E/K 41 rs373765319 0.1211 None gnomAD-4.0.0 6.37042E-06
22881 41 R/G 43 None 0.2165 None gnomAD-4.0.0 9.58267E-06
22881 41 R/Q 43 rs772700244 0.2165 None gnomAD-2.1.1 3.63E-05
22881 41 R/Q 43 rs772700244 0.2165 None gnomAD-4.0.0 1.71113E-05
22882 42 D/E 44 None 0.3360 None gnomAD-4.0.0 1.59244E-06
22884 44 P/L 54 rs2046764979 0.8605 None gnomAD-3.1.2 6.58E-06
22884 44 P/L 54 rs2046764979 0.8605 None gnomAD-4.0.0 6.57774E-06
22885 45 S/L 60 rs376574861 0.2967 None gnomAD-2.1.1 1.61E-05
22885 45 S/L 60 rs376574861 0.2967 None gnomAD-3.1.2 1.32E-05
22885 45 S/L 60 rs376574861 0.2967 None gnomAD-4.0.0 9.91869E-06
22885 45 S/W 60 None 0.2967 None gnomAD-4.0.0 6.84426E-07
22887 47 S/F 64 rs2046762704 0.4364 None gnomAD-3.1.2 6.58E-06
22887 47 S/F 64 rs2046762704 0.4364 None gnomAD-4.0.0 6.57903E-06
22887 47 S/T 64 None 0.4364 None gnomAD-4.0.0 2.05319E-06
22888 48 W/R 65 rs771372905 0.2601 None gnomAD-2.1.1 4.04E-06
22892 52 N/H 69 None 0.1275 None gnomAD-4.0.0 1.5921E-06
22892 52 N/K 69 None 0.1275 None gnomAD-4.0.0 6.84379E-07
22892 52 N/S 69 rs1575837418 0.1275 None gnomAD-3.1.2 6.57E-06
22892 52 N/S 69 rs1575837418 0.1275 None gnomAD-4.0.0 2.56304E-06
22893 53 H/D 70 rs2046760541 1.0542 None gnomAD-4.0.0 1.36877E-06
22893 53 H/R 70 rs1039583705 1.0542 None gnomAD-2.1.1 4.03E-06
22893 53 H/R 70 rs1039583705 1.0542 None gnomAD-3.1.2 6.57E-06
22893 53 H/R 70 rs1039583705 1.0542 None gnomAD-4.0.0 3.09923E-06
22893 53 H/Y 70 None 1.0542 None gnomAD-4.0.0 6.84387E-07
22894 54 V/D 72 rs2046759146 0.6625 None gnomAD-3.1.2 6.57E-06
22894 54 V/D 72 rs2046759146 0.6625 None gnomAD-4.0.0 6.57471E-06
22895 55 N/D 75 rs2046758201 0.5134 None gnomAD-4.0.0 1.5921E-06
22896 56 V/F 77 None 0.1060 None gnomAD-4.0.0 1.20032E-06
22897 57 P/S 83 rs749642221 0.4913 None gnomAD-2.1.1 4.03E-06
22897 57 P/S 83 rs749642221 0.4913 None gnomAD-4.0.0 1.36876E-06
22898 58 E/K 88 rs1416793414 0.7170 None gnomAD-3.1.2 6.57E-06
22898 58 E/K 88 rs1416793414 0.7170 None gnomAD-4.0.0 6.57471E-06
22898 58 E/Q 88 rs1416793414 0.7170 None gnomAD-2.1.1 3.19E-05
22898 58 E/Q 88 rs1416793414 0.7170 None gnomAD-3.1.2 6.57E-06
22898 58 E/Q 88 rs1416793414 0.7170 None gnomAD-4.0.0 6.57471E-06
22899 59 C/Y 89 None 0.1286 None gnomAD-4.0.0 1.20032E-06
22900 60 A/D 90 rs780862555 0.2264 None gnomAD-2.1.1 1.79E-05
22900 60 A/D 90 rs780862555 0.2264 None gnomAD-3.1.2 6.58E-06
22900 60 A/D 90 rs780862555 0.2264 None gnomAD-4.0.0 1.23975E-05
22900 60 A/G 90 None 0.2264 None gnomAD-4.0.0 2.73754E-06
22900 60 A/P 90 None 0.2264 None gnomAD-4.0.0 6.84367E-07
22900 60 A/T 90 rs2046756286 0.2264 None gnomAD-4.0.0 1.43717E-05
22901 61 F/Y 91 None 0.1973 None gnomAD-4.0.0 1.59212E-06
22903 63 V/I 93 rs754632693 0.1229 None gnomAD-2.1.1 1.21E-05
22903 63 V/I 93 rs754632693 0.1229 None gnomAD-4.0.0 4.77643E-06
22904 64 T/I 94 rs779476151 0.4754 None gnomAD-2.1.1 8.07E-06
22904 64 T/I 94 rs779476151 0.4754 None gnomAD-3.1.2 6.57E-06
22904 64 T/I 94 rs779476151 0.4754 None gnomAD-4.0.0 3.8454E-06
22904 64 T/N 94 rs779476151 0.4754 None gnomAD-2.1.1 4.03E-06
22904 64 T/N 94 rs779476151 0.4754 None gnomAD-4.0.0 3.18441E-06
22905 65 D/E 96 None 0.8303 None gnomAD-4.0.0 2.05317E-06
22906 66 L/F 97 None 0.1237 None gnomAD-4.0.0 6.84395E-07
22906 66 L/I 97 None 0.1237 None gnomAD-4.0.0 2.05319E-06
22909 69 G/S 100 rs1229308935 0.4075 None gnomAD-3.1.2 6.58E-06
22909 69 G/S 100 rs1229308935 0.4075 None gnomAD-4.0.0 6.57696E-06
22910 70 G/R 102 rs794729245 0.1516 None gnomAD-4.0.0 6.8442E-07
22912 72 Y/C 104 rs757919433 0.1230 None gnomAD-2.1.1 1.43E-05
22912 72 Y/C 104 rs757919433 0.1230 None gnomAD-3.1.2 3.29E-05
22912 72 Y/C 104 rs757919433 0.1230 None gnomAD-4.0.0 7.69114E-06
22914 74 F/L 106 None 0.1080 None gnomAD-4.0.0 1.20033E-06
22915 75 R/G 107 rs750315243 0.1214 None gnomAD-2.1.1 4.03E-06
22915 75 R/K 107 rs2154173966 0.1214 None gnomAD-4.0.0 3.18482E-06
22916 76 I/T 108 None 0.0693 None gnomAD-4.0.0 1.20033E-06
22917 77 R/K 109 rs2046750925 0.1750 None gnomAD-3.1.2 6.57E-06
22917 77 R/K 109 rs2046750925 0.1750 None gnomAD-4.0.0 6.57497E-06
22917 77 R/T 109 None 0.1750 None gnomAD-4.0.0 1.59247E-06
22918 78 A/E 110 rs1194010406 0.0949 None gnomAD-2.1.1 4.03E-06
22918 78 A/E 110 rs1194010406 0.0949 None gnomAD-3.1.2 6.58E-06
22918 78 A/E 110 rs1194010406 0.0949 None gnomAD-4.0.0 1.8598E-06
22918 78 A/S 110 rs909868420 0.0949 None gnomAD-2.1.1 2.15E-05
22918 78 A/S 110 rs909868420 0.0949 None gnomAD-3.1.2 1.32E-05
22918 78 A/S 110 rs909868420 0.0949 None gnomAD-4.0.0 8.97385E-06
22918 78 A/V 110 rs1194010406 0.0949 None gnomAD-2.1.1 8.07E-06
22918 78 A/V 110 rs1194010406 0.0949 None gnomAD-3.1.2 6.58E-06
22918 78 A/V 110 rs1194010406 0.0949 None gnomAD-4.0.0 3.71961E-06
22919 79 K/E 111 None 0.3678 None gnomAD-4.0.0 1.20032E-06
22920 80 N/K 112 rs1438744287 0.1043 None gnomAD-2.1.1 4.03E-06
22920 80 N/K 112 rs1438744287 0.1043 None gnomAD-4.0.0 6.84451E-07
22920 80 N/S 112 None 0.1043 None gnomAD-4.0.0 1.20032E-06
22921 81 T/I 113 rs534567766 0.4291 None gnomAD-2.1.1 1.93436E-04
22921 81 T/I 113 rs534567766 0.4291 None gnomAD-3.1.2 6.57E-05
22921 81 T/I 113 rs534567766 0.4291 None 1000 genomes 3.99361E-04
22921 81 T/I 113 rs534567766 0.4291 None gnomAD-4.0.0 9.73206E-05
22922 82 A/V 114 rs367924146 0.4725 None gnomAD-4.0.0 2.40066E-06
22923 83 G/R 115 rs1206128467 0.3168 None gnomAD-2.1.1 4.04E-06
22923 83 G/R 115 rs1206128467 0.3168 None gnomAD-4.0.0 1.5928E-06
22924 84 A/G 116 rs1233193940 0.2809 None gnomAD-2.1.1 6.38E-05
22924 84 A/G 116 rs1233193940 0.2809 None gnomAD-3.1.2 1.32E-05
22924 84 A/G 116 rs1233193940 0.2809 None gnomAD-4.0.0 1.31562E-05
22924 84 A/T 116 None 0.2809 None gnomAD-4.0.0 1.59294E-06
22924 84 A/V 116 None 0.2809 None gnomAD-4.0.0 1.59303E-06
22925 85 I/V 117 None 0.4493 None gnomAD-4.0.0 1.59295E-06
22926 86 S/N 118 rs958609992 0.0960 None gnomAD-4.0.0 1.36913E-06
22926 86 S/R 118 rs753624630 0.0960 None gnomAD-2.1.1 8.08E-06
22926 86 S/R 118 rs753624630 0.0960 None gnomAD-4.0.0 3.18609E-06
22928 88 P/S 120 rs1206552803 0.3009 None gnomAD-2.1.1 3.19E-05
22928 88 P/S 120 rs1206552803 0.3009 None gnomAD-3.1.2 6.58E-06
22928 88 P/S 120 rs1206552803 0.3009 None gnomAD-4.0.0 2.566E-06
22929 89 S/L 121 rs764365298 0.1207 None gnomAD-2.1.1 8.09E-06
22929 89 S/L 121 rs764365298 0.1207 None gnomAD-4.0.0 3.18796E-06
22929 89 S/P 121 rs1277213346 0.1207 None gnomAD-2.1.1 4.04E-06
22929 89 S/P 121 rs1277213346 0.1207 None gnomAD-3.1.2 6.58E-06
22929 89 S/P 121 rs1277213346 0.1207 None gnomAD-4.0.0 6.57609E-06
22931 91 S/N 123 rs201567815 0.2858 None gnomAD-2.1.1 6.90573E-04
22931 91 S/N 123 rs201567815 0.2858 None gnomAD-3.1.2 5E-04
22931 91 S/N 123 rs201567815 0.2858 None gnomAD-4.0.0 3.66063E-04
22931 91 S/R 123 rs794729484 0.2858 None gnomAD-2.1.1 3.19E-05
22931 91 S/R 123 rs794729484 0.2858 None gnomAD-3.1.2 3.29E-05
22931 91 S/R 123 rs794729484 0.2858 None gnomAD-4.0.0 5.58301E-06
22932 92 T/S 124 None 0.1510 None gnomAD-4.0.0 3.60097E-06
22933 93 E/K 125 None 0.8880 None gnomAD-4.0.0 1.59698E-06
22934 94 T/A 126 rs749399592 0.4649 None gnomAD-2.1.1 8.12E-06
22934 94 T/A 126 rs749399592 0.4649 None gnomAD-3.1.2 6.58E-06
22934 94 T/A 126 rs749399592 0.4649 None gnomAD-4.0.0 3.59995E-05
22935 95 I/N 127 rs971232021 0.1333 None gnomAD-2.1.1 4.1E-06
22935 95 I/N 127 rs971232021 0.1333 None gnomAD-3.1.2 6.57E-06
22935 95 I/N 127 rs971232021 0.1333 None gnomAD-4.0.0 3.87447E-06
22938 98 K/M 131 rs2046738934 0.3853 None gnomAD-3.1.2 6.57E-06
22938 98 K/M 131 rs2046738934 0.3853 None gnomAD-4.0.0 3.88038E-06
22939 99 D/G 132 None 0.4664 None gnomAD-4.0.0 6.87923E-07
22939 99 D/V 132 None 0.4664 None gnomAD-4.0.0 1.37585E-06