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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
13876 1 L/M 3 None 0.2852 None gnomAD-4.0.0 1.62411E-06
13877 2 V/A 4 rs199969810 0.4872 None gnomAD-4.0.0 1.63166E-06
13877 2 V/G 4 rs199969810 0.4872 None gnomAD-4.0.0 2.87175E-04
13877 2 V/M 4 rs1272825852 0.4872 None gnomAD-2.1.1 4.36E-06
13877 2 V/M 4 rs1272825852 0.4872 None gnomAD-3.1.2 6.58E-06
13877 2 V/M 4 rs1272825852 0.4872 None gnomAD-4.0.0 3.90504E-06
13878 3 K/N 5 None 0.4722 None gnomAD-4.0.0 6.89888E-07
13880 5 I/L 8 rs1228888611 0.1250 None gnomAD-2.1.1 4.34E-06
13880 5 I/L 8 rs1228888611 0.1250 None gnomAD-4.0.0 6.89641E-07
13880 5 I/M 8 None 0.1250 None gnomAD-4.0.0 2.06898E-06
13880 5 I/T 8 None 0.1250 None gnomAD-4.0.0 1.62095E-06
13880 5 I/V 8 None 0.1250 None gnomAD-4.0.0 6.89641E-07
13881 6 R/G 9 rs747469275 0.8058 None gnomAD-2.1.1 8.71E-06
13881 6 R/G 9 rs747469275 0.8058 None gnomAD-3.1.2 2.63E-05
13881 6 R/G 9 rs747469275 0.8058 None gnomAD-4.0.0 2.08244E-05
13881 6 R/L 9 None 0.8058 None gnomAD-4.0.0 6.89825E-07
13881 6 R/Q 9 rs1268138413 0.8058 None gnomAD-2.1.1 1.31E-05
13881 6 R/Q 9 rs1268138413 0.8058 None gnomAD-3.1.2 6.58E-06
13881 6 R/Q 9 rs1268138413 0.8058 None gnomAD-4.0.0 6.24394E-06
13883 8 Q/K 13 None 0.1518 None gnomAD-4.0.0 1.62151E-06
13884 9 H/Q 14 rs1361052408 0.3812 None gnomAD-2.1.1 3.19E-05
13884 9 H/Q 14 rs1361052408 0.3812 None gnomAD-3.1.2 6.58E-06
13884 9 H/Q 14 rs1361052408 0.3812 None gnomAD-4.0.0 2.49721E-06
13884 9 H/R 14 rs1432673437 0.3812 None gnomAD-2.1.1 4.34E-06
13884 9 H/R 14 rs1432673437 0.3812 None gnomAD-4.0.0 6.89733E-06
13884 9 H/Y 14 None 0.3812 None gnomAD-4.0.0 1.62177E-06
13886 11 K/T 18 None 0.6015 None gnomAD-4.0.0 6.89835E-07
13887 12 P/R 23 rs1388854623 0.5237 None gnomAD-2.1.1 8.73E-06
13887 12 P/R 23 rs1388854623 0.5237 None gnomAD-4.0.0 4.83038E-06
13887 12 P/S 23 None 0.5237 None gnomAD-4.0.0 1.62346E-06
13888 13 K/N 24 rs1459382951 0.8102 None gnomAD-2.1.1 4.38E-06
13888 13 K/N 24 rs1459382951 0.8102 None gnomAD-4.0.0 1.13721E-05
13888 13 K/R 24 rs1324858653 0.8102 None gnomAD-4.0.0 1.62396E-06
13889 14 G/A 25 rs1029116705 0.2104 None gnomAD-4.0.0 3.45193E-06
13889 14 G/E 25 rs1029116705 0.2104 None gnomAD-2.1.1 4.39E-06
13889 14 G/E 25 rs1029116705 0.2104 None gnomAD-4.0.0 6.90386E-07
13890 15 T/I 26 rs780566983 0.3867 None gnomAD-2.1.1 4.41E-06
13890 15 T/I 26 rs780566983 0.3867 None gnomAD-4.0.0 2.07224E-06
13890 15 T/R 26 rs780566983 0.3867 None gnomAD-4.0.0 1.38149E-06
13892 17 I/M 29 None 0.3655 None gnomAD-4.0.0 1.20032E-06
13894 19 A/V 31 rs1409834949 0.2716 None gnomAD-2.1.1 4.46E-06
13894 19 A/V 31 rs1409834949 0.2716 None gnomAD-4.0.0 1.63189E-06
13896 21 D/N 34 rs371312327 0.1842 None gnomAD-2.1.1 4.49E-06
13896 21 D/V 34 None 0.1842 None gnomAD-4.0.0 1.63394E-06
13897 22 I/T 35 rs1288360484 0.1432 None gnomAD-3.1.2 6.58E-06
13897 22 I/T 35 rs1288360484 0.1432 None gnomAD-4.0.0 3.75826E-06
13898 23 A/G 38 None 0.4815 None gnomAD-4.0.0 1.6384E-06
13900 25 D/H 42 rs1188616797 0.8581 None gnomAD-2.1.1 9.13E-06
13900 25 D/H 42 rs1188616797 0.8581 None gnomAD-4.0.0 3.28008E-06
13901 26 T/P 43 None 0.3466 None gnomAD-4.0.0 4.80129E-06
13901 26 T/S 43 None 0.3466 None gnomAD-4.0.0 1.64096E-06
13902 27 P/T 44 rs865776326 0.5056 None gnomAD-4.0.0 1.64128E-06
13906 31 W/R 48 None 0.1413 None gnomAD-4.0.0 1.64324E-06
13907 32 F/L 49 rs1192032110 0.1220 None gnomAD-4.0.0 2.08134E-06
13908 33 K/R 50 None 0.2506 None gnomAD-4.0.0 1.20032E-06
13909 34 G/V 51 None 0.2702 None gnomAD-4.0.0 6.93745E-07
13910 35 Y/C 52 rs1469876306 1.0433 None gnomAD-4.0.0 1.64326E-06
13911 36 D/N 55 rs1209898521 0.7147 None gnomAD-4.0.0 6.93692E-07
13911 36 D/Y 55 rs1209898521 0.7147 None gnomAD-3.1.2 6.58E-06
13911 36 D/Y 55 rs1209898521 0.7147 None gnomAD-4.0.0 6.57774E-06
13912 37 E/D 56 rs779199526 0.3774 None gnomAD-2.1.1 4.59E-06
13913 38 I/V 58 None 0.1753 None gnomAD-4.0.0 1.20032E-06
13914 39 P/S 59 rs755785975 0.5942 None gnomAD-2.1.1 1.2E-05
13914 39 P/S 59 rs755785975 0.5942 None gnomAD-3.1.2 6.58E-06
13914 39 P/S 59 rs755785975 0.5942 None gnomAD-4.0.0 1.25469E-06
13915 40 A/V 70 rs371426048 0.6532 None gnomAD-2.1.1 6.9E-05
13915 40 A/V 70 rs371426048 0.6532 None gnomAD-3.1.2 3.29E-05
13915 40 A/V 70 rs371426048 0.6532 None gnomAD-4.0.0 3.76528E-05
13916 41 E/D 71 None 0.9063 None gnomAD-4.0.0 1.64186E-06
13916 41 E/K 71 None 0.9063 None gnomAD-4.0.0 6.93514E-07
13917 42 P/A 72 rs2060335468 0.6637 None gnomAD-3.1.2 6.59E-06
13917 42 P/A 72 rs2060335468 0.6637 None gnomAD-4.0.0 6.58709E-06
13917 42 P/R 72 rs754567722 0.6637 None gnomAD-2.1.1 2.31E-05
13917 42 P/R 72 rs754567722 0.6637 None gnomAD-3.1.2 1.32E-05
13917 42 P/R 72 rs754567722 0.6637 None gnomAD-4.0.0 1.00418E-05
13917 42 P/S 72 None 0.6637 None gnomAD-4.0.0 6.93544E-07
13918 43 N/D 73 rs2060334868 0.3634 None gnomAD-4.0.0 3.46618E-06
13918 43 N/K 73 rs1396769268 0.3634 None gnomAD-2.1.1 3.19E-05
13918 43 N/K 73 rs1396769268 0.3634 None gnomAD-3.1.2 1.32E-05
13918 43 N/K 73 rs1396769268 0.3634 None gnomAD-4.0.0 1.3152E-05
13919 44 D/G 111 rs2060334191 1.1066 None gnomAD-4.0.0 6.56463E-06
13920 45 K/Q 115 None 0.2245 None gnomAD-4.0.0 6.93226E-07
13920 45 K/R 115 rs751156425 0.2245 None gnomAD-2.1.1 9.15E-06
13920 45 K/R 115 rs751156425 0.2245 None gnomAD-4.0.0 3.281E-06
13921 46 T/A 121 None 0.2355 None gnomAD-4.0.0 1.20032E-06
13921 46 T/I 121 None 0.2355 None gnomAD-4.0.0 6.93129E-07
13925 50 R/G 127 None 0.4518 None gnomAD-4.0.0 1.20032E-06
13925 50 R/T 127 None 0.4518 None gnomAD-4.0.0 6.92981E-07
13926 51 D/G 130 None 0.7205 None gnomAD-4.0.0 1.20032E-06
13926 51 D/N 130 rs2060332594 0.7205 None gnomAD-4.0.0 2.56338E-05
13927 52 G/R 131 rs758326922 0.3797 None gnomAD-2.1.1 9.07E-06
13927 52 G/R 131 rs758326922 0.3797 None gnomAD-3.1.2 1.32E-05
13927 52 G/R 131 rs758326922 0.3797 None gnomAD-4.0.0 1.37868E-05
13927 52 G/V 131 None 0.3797 None gnomAD-4.0.0 1.63738E-06
13929 54 H/Q 135 None 0.4339 None gnomAD-4.0.0 1.63521E-06
13931 56 Y/C 137 None 0.3097 None gnomAD-4.0.0 1.38395E-06
13931 56 Y/H 137 rs1162801145 0.3097 None gnomAD-2.1.1 3.19E-05
13931 56 Y/H 137 rs1162801145 0.3097 None gnomAD-3.1.2 6.57E-06
13931 56 Y/H 137 rs1162801145 0.3097 None gnomAD-4.0.0 6.57488E-06
13936 61 N/H 143 None 0.7055 None gnomAD-4.0.0 2.07122E-06
13937 62 A/D 144 None 0.1111 None gnomAD-4.0.0 6.90088E-07
13937 62 A/V 144 rs545806408 0.1111 None gnomAD-2.1.1 4.2682E-04
13937 62 A/V 144 rs545806408 0.1111 None gnomAD-3.1.2 1.31581E-04
13937 62 A/V 144 rs545806408 0.1111 None 1000 genomes 1.39776E-03
13937 62 A/V 144 rs545806408 0.1111 None gnomAD-4.0.0 1.69248E-04
13938 63 M/V 145 rs201725483 0.4601 None gnomAD-2.1.1 3.86E-05
13938 63 M/V 145 rs201725483 0.4601 None gnomAD-3.1.2 4.6E-05
13938 63 M/V 145 rs201725483 0.4601 None gnomAD-4.0.0 1.13639E-04
13939 64 P/S 146 None 0.5901 None gnomAD-4.0.0 1.6204E-06
13940 65 E/D 148 None 0.5726 None gnomAD-4.0.0 3.23387E-06
13940 65 E/Q 148 rs1172846357 0.5726 None gnomAD-2.1.1 3.19E-05
13940 65 E/Q 148 rs1172846357 0.5726 None gnomAD-3.1.2 1.31E-05
13940 65 E/Q 148 rs1172846357 0.5726 None gnomAD-4.0.0 5.61401E-06
13942 67 I/V 151 rs902514647 0.4009 None gnomAD-2.1.1 3.19E-05
13944 69 E/V 153 None 0.4528 None gnomAD-4.0.0 1.61311E-06
13946 71 A/T 155 None 0.0859 None gnomAD-4.0.0 6.88053E-07
13949 74 I/V 158 None 0.1758 None gnomAD-4.0.0 6.87561E-07
13953 78 R/I 163 rs1268324463 0.2367 None gnomAD-2.1.1 4.21E-06
13953 78 R/I 163 rs1268324463 0.2367 None gnomAD-4.0.0 3.21587E-06
13954 79 Y/C 164 None 0.2167 None gnomAD-4.0.0 3.21484E-06
13954 79 Y/H 164 None 0.2167 None gnomAD-4.0.0 2.74832E-06
13955 80 P/H 165 rs776863726 0.4845 None gnomAD-3.1.2 6.58E-06
13955 80 P/H 165 rs776863726 0.4845 None gnomAD-4.0.0 2.0531E-05
13955 80 P/L 165 rs776863726 0.4845 None gnomAD-3.1.2 6.58E-06
13955 80 P/L 165 rs776863726 0.4845 None gnomAD-4.0.0 1.86646E-06
13956 81 A/T 166 rs1176642239 0.0798 None gnomAD-2.1.1 4.2E-06
13956 81 A/T 166 rs1176642239 0.0798 None gnomAD-4.0.0 1.60727E-06
13956 81 A/V 166 rs2060324765 0.0798 None gnomAD-3.1.2 6.58E-06
13957 82 K/N 168 None 0.5881 None gnomAD-4.0.0 6.87104E-07
13958 83 L/V 178 None 0.1097 None gnomAD-4.0.0 6.87166E-07