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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
14853 1 V/A 1 rs1478720233 0.4038 None gnomAD-2.1.1 4.05E-06
14853 1 V/F 1 rs753457792 0.4038 None gnomAD-3.1.2 6.58E-06
14853 1 V/F 1 rs753457792 0.4038 None gnomAD-4.0.0 6.58172E-06
14853 1 V/G 1 None 0.4038 None gnomAD-4.0.0 2.40064E-06
14853 1 V/I 1 rs753457792 0.4038 None gnomAD-2.1.1 4.05E-06
14854 2 E/K 2 None 0.5355 None gnomAD-4.0.0 1.20032E-06
14855 3 F/L 3 rs1424075362 0.1945 None gnomAD-2.1.1 4.04E-06
14855 3 F/L 3 rs1424075362 0.1945 None gnomAD-4.0.0 1.59464E-06
14856 4 T/S 4 None 0.4782 None gnomAD-4.0.0 1.20032E-06
14858 6 P/R 7 None 0.4807 None gnomAD-4.0.0 7.53285E-06
14858 6 P/S 7 rs763784981 0.4807 None gnomAD-2.1.1 8.08E-06
14858 6 P/S 7 rs763784981 0.4807 None gnomAD-3.1.2 1.32E-05
14858 6 P/S 7 rs763784981 0.4807 None gnomAD-4.0.0 6.41825E-06
14859 7 L/P 8 rs553230082 0.1402 None gnomAD-2.1.1 2.83E-05
14859 7 L/P 8 rs553230082 0.1402 None gnomAD-3.1.2 2.63E-05
14859 7 L/P 8 rs553230082 0.1402 None 1000 genomes 1.99681E-04
14859 7 L/P 8 rs553230082 0.1402 None gnomAD-4.0.0 3.72171E-05
14861 9 D/N 11 rs1044788441 0.5419 None gnomAD-2.1.1 8.08E-06
14861 9 D/N 11 rs1044788441 0.5419 None gnomAD-3.1.2 1.32E-05
14861 9 D/N 11 rs1044788441 0.5419 None gnomAD-4.0.0 1.11648E-05
14862 10 Q/H 13 None 0.3065 None gnomAD-4.0.0 6.84765E-07
14862 10 Q/R 13 None 0.3065 None gnomAD-4.0.0 1.20032E-06
14863 11 T/K 14 None 0.4707 None gnomAD-4.0.0 2.73913E-06
14863 11 T/M 14 rs759406486 0.4707 None gnomAD-2.1.1 5.02E-05
14863 11 T/M 14 rs759406486 0.4707 None gnomAD-3.1.2 6.58E-05
14863 11 T/M 14 rs759406486 0.4707 None gnomAD-4.0.0 4.9002E-05
14863 11 T/R 14 rs759406486 0.4707 None gnomAD-2.1.1 4.04E-06
14863 11 T/R 14 rs759406486 0.4707 None gnomAD-4.0.0 9.58697E-06
14864 12 V/F 16 rs535221404 0.1654 None gnomAD-2.1.1 1.21E-05
14864 12 V/F 16 rs535221404 0.1654 None gnomAD-3.1.2 6.58E-06
14864 12 V/F 16 rs535221404 0.1654 None gnomAD-4.0.0 2.48072E-06
14864 12 V/I 16 rs535221404 0.1654 None gnomAD-2.1.1 4.04E-06
14864 12 V/I 16 rs535221404 0.1654 None gnomAD-4.0.0 1.36953E-06
14865 13 E/K 18 rs543102139 0.2737 None gnomAD-2.1.1 1.18235E-04
14865 13 E/K 18 rs543102139 0.2737 None gnomAD-3.1.2 1.71138E-04
14865 13 E/K 18 rs543102139 0.2737 None 1000 genomes 5.99042E-04
14865 13 E/K 18 rs543102139 0.2737 None gnomAD-4.0.0 5.70574E-05
14867 15 G/A 24 rs1317888739 0.3239 None gnomAD-2.1.1 3.19E-05
14867 15 G/A 24 rs1317888739 0.3239 None gnomAD-3.1.2 6.58E-06
14867 15 G/A 24 rs1317888739 0.3239 None gnomAD-4.0.0 6.58207E-06
14867 15 G/E 24 rs1317888739 0.3239 None gnomAD-4.0.0 1.20033E-06
14867 15 G/R 24 rs144848584 0.3239 None gnomAD-2.1.1 1.41208E-04
14867 15 G/R 24 rs144848584 0.3239 None gnomAD-3.1.2 7.24E-05
14867 15 G/R 24 rs144848584 0.3239 None 1000 genomes 1.99681E-04
14867 15 G/R 24 rs144848584 0.3239 None gnomAD-4.0.0 1.28999E-04
14869 17 T/S 26 None 0.3275 None gnomAD-4.0.0 1.20036E-06
14870 18 A/E 28 None 0.1123 None gnomAD-4.0.0 2.40067E-06
14871 19 V/A 29 rs2058765049 0.3703 None gnomAD-3.1.2 6.58E-06
14871 19 V/A 29 rs2058765049 0.3703 None gnomAD-4.0.0 2.03041E-06
14872 20 L/M 30 None 0.1387 None gnomAD-4.0.0 1.20032E-06
14873 21 E/A 31 None 0.3284 None gnomAD-4.0.0 1.59391E-06
14874 22 C/Y 33 rs375446773 0.0746 None gnomAD-4.0.0 1.20034E-06
14875 23 E/D 34 None 0.2958 None gnomAD-4.0.0 1.59385E-06
14876 24 V/G 35 None 0.1041 None gnomAD-4.0.0 1.20033E-06
14878 26 R/G 40 rs1376059487 0.6747 None gnomAD-2.1.1 4.03E-06
14878 26 R/G 40 rs1376059487 0.6747 None gnomAD-4.0.0 1.59384E-06
14878 26 R/K 40 rs1456271454 0.6747 None gnomAD-3.1.2 6.58E-06
14878 26 R/K 40 rs1456271454 0.6747 None gnomAD-4.0.0 6.58207E-06
14880 28 N/S 43 rs747496717 1.0038 None gnomAD-2.1.1 4.03E-06
14880 28 N/S 43 rs747496717 1.0038 None gnomAD-4.0.0 1.59382E-06
14881 29 A/V 44 rs780650251 0.1992 None gnomAD-2.1.1 1.21E-05
14881 29 A/V 44 rs780650251 0.1992 None gnomAD-4.0.0 6.37519E-06
14882 30 K/T 45 rs988336748 0.9981 None gnomAD-2.1.1 3.19E-05
14882 30 K/T 45 rs988336748 0.9981 None gnomAD-3.1.2 6.58E-06
14882 30 K/T 45 rs988336748 0.9981 None gnomAD-4.0.0 2.48061E-06
14883 31 V/A 46 None 0.2793 None gnomAD-4.0.0 1.20032E-06
14883 31 V/L 46 rs1175129824 0.2793 None gnomAD-2.1.1 4.03E-06
14883 31 V/M 46 None 0.2793 None gnomAD-4.0.0 1.59376E-06
14886 34 F/Y 49 rs2058759633 0.1607 None gnomAD-4.0.0 8.90043E-06
14887 35 K/R 50 None 0.1431 None gnomAD-4.0.0 1.59364E-06
14890 38 T/A 55 rs2058757156 0.6267 None gnomAD-3.1.2 6.58E-06
14890 38 T/A 55 rs2058757156 0.6267 None gnomAD-4.0.0 6.58068E-06
14890 38 T/I 55 rs2154215014 0.6267 None gnomAD-3.1.2 6.59E-06
14890 38 T/I 55 rs2154215014 0.6267 None gnomAD-4.0.0 6.5799E-06
14893 41 L/F 59 None 0.8820 None gnomAD-4.0.0 1.59357E-06
14893 41 L/P 59 None 0.8820 None gnomAD-4.0.0 3.42315E-06
14895 43 S/C 73 None 0.2632 None gnomAD-4.0.0 1.20032E-06
14895 43 S/I 73 None 0.2632 None gnomAD-4.0.0 4.78063E-06
14896 44 K/N 111 rs2058754432 1.0724 None gnomAD-3.1.2 6.58E-06
14896 44 K/N 111 rs2058754432 1.0724 None gnomAD-4.0.0 6.58224E-06
14896 44 K/R 111 rs867080281 1.0724 None gnomAD-4.0.0 3.60097E-06
14898 46 Y/C 121 None 0.1764 None gnomAD-4.0.0 1.59355E-06
14898 46 Y/H 121 rs752146866 0.1764 None gnomAD-2.1.1 4.03E-06
14898 46 Y/H 121 rs752146866 0.1764 None gnomAD-4.0.0 2.40064E-06
14900 48 I/F 123 rs1458633272 0.2761 None gnomAD-2.1.1 4.03E-06
14900 48 I/F 123 rs1458633272 0.2761 None gnomAD-4.0.0 6.84613E-07
14900 48 I/T 123 rs1237236347 0.2761 None gnomAD-2.1.1 8.06E-06
14900 48 I/T 123 rs1237236347 0.2761 None gnomAD-4.0.0 3.18693E-06
14900 48 I/V 123 None 0.2761 None gnomAD-4.0.0 1.36923E-06
14902 50 A/P 127 rs1208525940 0.4895 None gnomAD-2.1.1 7.16E-06
14902 50 A/P 127 rs1208525940 0.4895 None gnomAD-3.1.2 6.58E-06
14902 50 A/P 127 rs1208525940 0.4895 None gnomAD-4.0.0 2.56566E-06
14903 51 D/Y 130 None 0.7964 None gnomAD-4.0.0 1.59344E-06
14905 53 R/G 134 None 0.4183 None gnomAD-4.0.0 1.5934E-06
14905 53 R/K 134 None 0.4183 None gnomAD-4.0.0 1.20032E-06
14905 53 R/S 134 rs1279690538 0.4183 None gnomAD-3.1.2 6.59E-06
14905 53 R/S 134 rs1279690538 0.4183 None gnomAD-4.0.0 6.58527E-06
14906 54 V/L 135 None 0.2216 None gnomAD-4.0.0 1.59336E-06
14909 57 L/F 138 None 0.0717 None gnomAD-4.0.0 1.5934E-06
14910 58 V/L 139 None 0.1655 None gnomAD-4.0.0 1.20032E-06
14911 59 I/K 140 rs754905274 0.0753 None gnomAD-2.1.1 4.03E-06
14911 59 I/K 140 rs754905274 0.0753 None gnomAD-4.0.0 1.59342E-06
14911 59 I/M 140 rs751425454 0.0753 None gnomAD-2.1.1 3.23E-05
14911 59 I/M 140 rs751425454 0.0753 None gnomAD-4.0.0 1.43767E-05
14911 59 I/T 140 rs754905274 0.0753 None gnomAD-2.1.1 4.03E-06
14911 59 I/T 140 rs754905274 0.0753 None gnomAD-3.1.2 6.58E-06
14911 59 I/T 140 rs754905274 0.0753 None gnomAD-4.0.0 6.57921E-06
14912 60 H/P 141 rs2058749191 0.4017 None gnomAD-3.1.2 6.58E-06
14912 60 H/P 141 rs2058749191 0.4017 None gnomAD-4.0.0 2.0302E-06
14912 60 H/Q 141 rs762830792 0.4017 None gnomAD-2.1.1 8.06E-06
14912 60 H/Q 141 rs762830792 0.4017 None gnomAD-4.0.0 1.36921E-06
14912 60 H/R 141 None 0.4017 None gnomAD-4.0.0 1.20033E-06
14912 60 H/Y 141 rs766391823 0.4017 None gnomAD-2.1.1 5.73E-05
14912 60 H/Y 141 rs766391823 0.4017 None gnomAD-3.1.2 8.55E-05
14912 60 H/Y 141 rs766391823 0.4017 None gnomAD-4.0.0 5.58088E-05
14913 61 D/G 143 None 0.6945 None gnomAD-4.0.0 6.16141E-06
14913 61 D/N 143 None 0.6945 None gnomAD-4.0.0 3.18682E-06
14914 62 C/Y 144 rs773211286 0.0843 None gnomAD-2.1.1 2.82E-05
14914 62 C/Y 144 rs773211286 0.0843 None gnomAD-4.0.0 2.66997E-05
14915 63 T/A 145 rs878854310 0.2675 None gnomAD-4.0.0 2.73844E-06
14915 63 T/I 145 rs765495409 0.2675 None gnomAD-2.1.1 1.43E-05
14915 63 T/I 145 rs765495409 0.2675 None gnomAD-3.1.2 1.97E-05
14915 63 T/I 145 rs765495409 0.2675 None gnomAD-4.0.0 5.58112E-06
14916 64 P/L 146 None 0.5052 None gnomAD-4.0.0 1.20033E-06
14916 64 P/S 146 rs2058747129 0.5052 None gnomAD-4.0.0 3.18692E-06
14917 65 E/G 148 None 0.7773 None gnomAD-4.0.0 4.79232E-06
14917 65 E/K 148 None 0.7773 None gnomAD-4.0.0 2.05386E-06
14918 66 D/V 149 None 0.1147 None gnomAD-4.0.0 2.40065E-06
14919 67 I/M 151 None 0.2993 None gnomAD-4.0.0 1.20033E-06
14920 68 K/T 152 None 0.1961 None gnomAD-4.0.0 1.20032E-06
14921 69 T/I 153 rs776808932 0.3210 None gnomAD-2.1.1 4.03E-06
14921 69 T/I 153 rs776808932 0.3210 None gnomAD-4.0.0 2.73851E-06
14922 70 Y/D 154 rs1576599425 0.1002 None gnomAD-3.1.2 6.58E-06
14922 70 Y/H 154 None 0.1002 None gnomAD-4.0.0 2.40065E-06
14923 71 T/S 155 rs760857643 0.1957 None gnomAD-2.1.1 4.03E-06
14923 71 T/S 155 rs760857643 0.1957 None gnomAD-4.0.0 1.36929E-06
14924 72 C/Y 156 None 0.0598 None gnomAD-4.0.0 1.59369E-06
14925 73 D/G 157 rs775846804 0.1744 None gnomAD-2.1.1 2.82E-05
14925 73 D/G 157 rs775846804 0.1744 None gnomAD-3.1.2 1.32E-05
14925 73 D/G 157 rs775846804 0.1744 None gnomAD-4.0.0 8.68114E-06
14926 74 A/V 158 None 0.1266 None gnomAD-4.0.0 2.40064E-06
14928 76 D/N 161 rs772700762 0.6096 None gnomAD-2.1.1 4.03E-06
14928 76 D/N 161 rs772700762 0.6096 None gnomAD-4.0.0 1.59389E-06
14928 76 D/V 161 rs2058743726 0.6096 None gnomAD-4.0.0 6.84692E-07
14931 79 T/A 164 rs779264506 0.1175 None gnomAD-2.1.1 1.21E-05
14931 79 T/A 164 rs779264506 0.1175 None gnomAD-3.1.2 2.63E-05
14931 79 T/A 164 rs779264506 0.1175 None gnomAD-4.0.0 1.61247E-05
14931 79 T/I 164 rs1292868903 0.1175 None gnomAD-3.1.2 6.58E-06
14931 79 T/I 164 rs1292868903 0.1175 None gnomAD-4.0.0 1.86053E-06
14931 79 T/N 164 rs1292868903 0.1175 None gnomAD-4.0.0 1.36943E-06
14931 79 T/S 164 None 0.1175 None gnomAD-4.0.0 2.73886E-06
14932 80 S/F 165 None 0.3239 None gnomAD-4.0.0 1.20032E-06
14933 81 C/R 166 rs1238423083 0.0978 None gnomAD-2.1.1 4.03E-06
14933 81 C/R 166 rs1238423083 0.0978 None gnomAD-4.0.0 1.59414E-06
14933 81 C/Y 166 None 0.0978 None gnomAD-4.0.0 1.20032E-06
14934 82 N/K 168 None 0.4052 None gnomAD-4.0.0 6.84769E-07
14935 83 L/V 174 rs1230286076 0.1179 None gnomAD-3.1.2 6.58E-06
14935 83 L/V 174 rs1230286076 0.1179 None gnomAD-4.0.0 6.58172E-06