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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
8830 1 A/E 1 None 0.1288 None gnomAD-4.0.0 6.86803E-07
8830 1 A/T 1 rs1358888602 0.1288 None gnomAD-2.1.1 3.19E-05
8830 1 A/T 1 rs1358888602 0.1288 None gnomAD-3.1.2 6.57E-06
8830 1 A/T 1 rs1358888602 0.1288 None gnomAD-4.0.0 6.57315E-06
8830 1 A/V 1 rs976129365 0.1288 None gnomAD-2.1.1 3.19E-05
8830 1 A/V 1 rs976129365 0.1288 None gnomAD-4.0.0 6.86803E-07
8831 2 T/A 2 None 0.4930 None gnomAD-4.0.0 1.20032E-06
8832 3 I/S 3 None 0.1371 None gnomAD-4.0.0 1.37166E-06
8832 3 I/T 3 rs748198284 0.1371 None gnomAD-2.1.1 3.25E-05
8832 3 I/T 3 rs748198284 0.1371 None gnomAD-3.1.2 6.57E-06
8832 3 I/T 3 rs748198284 0.1371 None gnomAD-4.0.0 1.49047E-05
8832 3 I/V 3 rs72648989 0.1371 None gnomAD-2.1.1 7.57335E-04
8832 3 I/V 3 rs72648989 0.1371 None gnomAD-3.1.2 8.01809E-04
8832 3 I/V 3 rs72648989 0.1371 None 1000 genomes 1.99681E-04
8832 3 I/V 3 rs72648989 0.1371 None gnomAD-4.0.0 1.39471E-03
8833 4 V/L 4 rs1316360664 0.4980 None gnomAD-2.1.1 4.07E-06
8834 5 E/G 5 None 0.2584 None gnomAD-4.0.0 1.5988E-06
8836 7 P/L 8 None 0.2155 None gnomAD-4.0.0 1.08029E-05
8836 7 P/S 8 rs776799144 0.2155 None gnomAD-2.1.1 2.03E-05
8836 7 P/S 8 rs776799144 0.2155 None gnomAD-3.1.2 5.92E-05
8836 7 P/S 8 rs776799144 0.2155 None gnomAD-4.0.0 1.36527E-05
8837 8 E/A 9 None 0.5031 None gnomAD-4.0.0 1.20032E-06
8837 8 E/D 9 rs1457622129 0.5031 None gnomAD-4.0.0 1.59607E-06
8839 10 I/M 13 None 0.1966 None gnomAD-4.0.0 1.369E-06
8839 10 I/T 13 None 0.1966 None gnomAD-4.0.0 1.20032E-06
8839 10 I/V 13 None 0.1966 None gnomAD-4.0.0 2.05351E-06
8840 11 K/Q 14 None 0.6313 None gnomAD-4.0.0 1.59287E-06
8840 11 K/T 14 rs2077106214 0.6313 None gnomAD-3.1.2 6.57E-06
8840 11 K/T 14 rs2077106214 0.6313 None gnomAD-4.0.0 6.57013E-06
8841 12 V/L 16 rs2154297041 0.0979 None gnomAD-4.0.0 1.59262E-06
8843 14 T/M 23 rs72648990 0.4373 None gnomAD-2.1.1 3.75064E-04
8843 14 T/M 23 rs72648990 0.4373 None gnomAD-3.1.2 3.22186E-04
8843 14 T/M 23 rs72648990 0.4373 None gnomAD-4.0.0 3.81161E-04
8843 14 T/R 23 rs72648990 0.4373 None gnomAD-2.1.1 4.02E-06
8843 14 T/R 23 rs72648990 0.4373 None gnomAD-4.0.0 2.05299E-06
8844 15 G/R 24 None 0.2933 None gnomAD-4.0.0 1.20032E-06
8846 17 T/N 26 rs780494547 0.3252 None gnomAD-2.1.1 4.02E-06
8846 17 T/S 26 None 0.3252 None gnomAD-4.0.0 1.20034E-06
8847 18 C/G 28 None 0.1341 None gnomAD-4.0.0 1.20032E-06
8847 18 C/W 28 None 0.1341 None gnomAD-4.0.0 1.20032E-06
8847 18 C/Y 28 None 0.1341 None gnomAD-4.0.0 3.60098E-06
8849 20 L/F 30 None 0.1543 None gnomAD-4.0.0 1.20035E-06
8849 20 L/W 30 None 0.1543 None gnomAD-4.0.0 1.20032E-06
8850 21 E/K 31 None 0.3425 None gnomAD-4.0.0 6.84258E-07
8850 21 E/Q 31 rs2077103240 0.3425 None gnomAD-4.0.0 6.84258E-07
8851 22 C/G 33 rs558169834 0.0726 None gnomAD-2.1.1 3.22E-05
8851 22 C/G 33 rs558169834 0.0726 None gnomAD-3.1.2 2.63E-05
8851 22 C/G 33 rs558169834 0.0726 None gnomAD-4.0.0 7.12768E-05
8851 22 C/Y 33 rs398124444 0.0726 None gnomAD-2.1.1 3.19E-05
8851 22 C/Y 33 rs398124444 0.0726 None gnomAD-3.1.2 1.31E-05
8851 22 C/Y 33 rs398124444 0.0726 None gnomAD-4.0.0 4.95785E-06
8852 23 T/I 34 rs777360482 0.1989 None gnomAD-4.0.0 6.8426E-07
8852 23 T/K 34 rs777360482 0.1989 None gnomAD-2.1.1 1.21E-05
8852 23 T/K 34 rs777360482 0.1989 None gnomAD-4.0.0 3.4213E-06
8853 24 V/I 35 None 0.1302 None gnomAD-4.0.0 6.84261E-07
8853 24 V/L 35 rs757381520 0.1302 None gnomAD-2.1.1 2.41E-05
8853 24 V/L 35 rs757381520 0.1302 None gnomAD-4.0.0 6.84261E-06
8855 26 G/S 40 rs752090627 0.3267 None gnomAD-2.1.1 4.02E-06
8855 26 G/S 40 rs752090627 0.3267 None gnomAD-4.0.0 1.59163E-06
8855 26 G/V 40 rs767057972 0.3267 None gnomAD-2.1.1 2.14E-05
8855 26 G/V 40 rs767057972 0.3267 None gnomAD-3.1.2 3.94E-05
8855 26 G/V 40 rs767057972 0.3267 None gnomAD-4.0.0 1.42543E-05
8856 27 T/N 41 rs1331657608 0.7354 None gnomAD-3.1.2 6.58E-06
8856 27 T/N 41 rs1331657608 0.7354 None gnomAD-4.0.0 6.57566E-06
8857 28 P/S 42 rs1317672432 0.5667 None gnomAD-2.1.1 4.02E-06
8857 28 P/S 42 rs1317672432 0.5667 None gnomAD-3.1.2 6.58E-06
8857 28 P/S 42 rs1317672432 0.5667 None gnomAD-4.0.0 3.84438E-06
8858 29 E/D 43 None 0.9550 None gnomAD-4.0.0 1.59157E-06
8858 29 E/Q 43 rs751498825 0.9550 None gnomAD-2.1.1 4.02E-06
8858 29 E/Q 43 rs751498825 0.9550 None gnomAD-4.0.0 1.59163E-06
8859 30 L/I 44 rs1361604566 0.2151 None gnomAD-2.1.1 4.02E-06
8859 30 L/I 44 rs1361604566 0.2151 None gnomAD-4.0.0 1.59159E-06
8860 31 S/G 45 None 0.3912 None gnomAD-4.0.0 1.59163E-06
8860 31 S/N 45 rs1240256366 0.3912 None gnomAD-3.1.2 1.97E-05
8860 31 S/N 45 rs1240256366 0.3912 None gnomAD-4.0.0 1.97184E-05
8861 32 T/A 46 rs1432990460 0.2817 None gnomAD-2.1.1 4.02E-06
8861 32 T/A 46 rs1432990460 0.2817 None gnomAD-4.0.0 1.59163E-06
8861 32 T/S 46 rs1419666616 0.2817 None gnomAD-2.1.1 3.19E-05
8861 32 T/S 46 rs1419666616 0.2817 None gnomAD-3.1.2 1.31E-05
8861 32 T/S 46 rs1419666616 0.2817 None gnomAD-4.0.0 1.31473E-05
8863 34 W/R 48 rs1298764368 0.1050 None gnomAD-2.1.1 4.02E-06
8863 34 W/R 48 rs1298764368 0.1050 None gnomAD-3.1.2 6.58E-06
8863 34 W/R 48 rs1298764368 0.1050 None gnomAD-4.0.0 1.5917E-06
8864 35 F/C 49 rs773172873 0.1454 None gnomAD-2.1.1 4.03E-06
8864 35 F/L 49 rs762812203 0.1454 None gnomAD-2.1.1 1.61E-05
8864 35 F/L 49 rs762812203 0.1454 None gnomAD-3.1.2 6.57E-06
8864 35 F/L 49 rs762812203 0.1454 None gnomAD-4.0.0 1.28148E-05
8864 35 F/S 49 rs773172873 0.1454 None gnomAD-2.1.1 3.19E-05
8864 35 F/S 49 rs773172873 0.1454 None gnomAD-3.1.2 1.31E-05
8864 35 F/S 49 rs773172873 0.1454 None gnomAD-4.0.0 3.04499E-06
8865 36 K/N 50 rs765507696 0.1325 None gnomAD-2.1.1 5.72E-05
8865 36 K/N 50 rs765507696 0.1325 None gnomAD-3.1.2 4.6E-05
8865 36 K/N 50 rs765507696 0.1325 None gnomAD-4.0.0 1.61138E-05
8865 36 K/R 50 rs1165281102 0.1325 None gnomAD-2.1.1 4.02E-06
8865 36 K/R 50 rs1165281102 0.1325 None gnomAD-3.1.2 6.57E-06
8865 36 K/R 50 rs1165281102 0.1325 None gnomAD-4.0.0 7.68835E-06
8866 37 D/E 51 None 0.7072 None gnomAD-4.0.0 1.20032E-06
8866 37 D/G 51 rs2077094217 0.7072 None gnomAD-3.1.2 6.57E-06
8866 37 D/G 51 rs2077094217 0.7072 None gnomAD-4.0.0 6.5672E-06
8866 37 D/N 51 rs2077094495 0.7072 None gnomAD-4.0.0 1.20032E-06
8867 38 G/E 52 rs369142169 0.5242 None gnomAD-2.1.1 4.03E-06
8867 38 G/E 52 rs369142169 0.5242 None gnomAD-4.0.0 4.79016E-06
8867 38 G/R 52 rs762113080 0.5242 None gnomAD-2.1.1 2.5E-05
8867 38 G/R 52 rs762113080 0.5242 None gnomAD-3.1.2 1.31E-05
8867 38 G/R 52 rs762113080 0.5242 None gnomAD-4.0.0 5.39214E-05
8868 39 K/E 55 None 0.7578 None gnomAD-4.0.0 1.36857E-06
8868 39 K/N 55 None 0.7578 None gnomAD-4.0.0 1.59185E-06
8868 39 K/Q 55 rs776511625 0.7578 None gnomAD-2.1.1 4.02E-05
8868 39 K/Q 55 rs776511625 0.7578 None gnomAD-3.1.2 3.29E-05
8868 39 K/Q 55 rs776511625 0.7578 None gnomAD-4.0.0 2.41707E-05
8869 40 E/K 56 rs375373507 0.3241 None gnomAD-2.1.1 2.01E-05
8869 40 E/K 56 rs375373507 0.3241 None gnomAD-4.0.0 5.47442E-06
8870 41 L/I 58 None 0.1718 None gnomAD-4.0.0 1.20032E-05
8871 42 T/A 59 rs2077092454 0.7437 None gnomAD-3.1.2 6.57E-06
8871 42 T/A 59 rs2077092454 0.7437 None gnomAD-4.0.0 6.57272E-06
8873 44 D/E 73 rs772596633 0.3459 None gnomAD-2.1.1 1.32209E-04
8873 44 D/E 73 rs772596633 0.3459 None gnomAD-3.1.2 4.6E-05
8873 44 D/E 73 rs772596633 0.3459 None gnomAD-4.0.0 8.07342E-05
8873 44 D/G 73 rs776032171 0.3459 None gnomAD-2.1.1 7.15E-06
8873 44 D/G 73 rs776032171 0.3459 None gnomAD-4.0.0 4.10585E-06
8874 45 N/K 111 None 0.9777 None gnomAD-4.0.0 6.84312E-07
8874 45 N/S 111 rs1222843561 0.9777 None gnomAD-2.1.1 4.02E-06
8874 45 N/S 111 rs1222843561 0.9777 None gnomAD-4.0.0 1.59169E-06
8875 46 K/I 115 rs1472784946 0.1478 None gnomAD-3.1.2 1.31E-05
8875 46 K/I 115 rs1472784946 0.1478 None gnomAD-4.0.0 1.31463E-05
8876 47 Y/C 121 rs1307074594 0.1936 None gnomAD-2.1.1 4.02E-06
8879 50 S/G 125 None 0.4507 None gnomAD-4.0.0 1.20034E-06
8879 50 S/I 125 None 0.4507 None gnomAD-4.0.0 6.84317E-07
8879 50 S/N 125 None 0.4507 None gnomAD-4.0.0 6.84317E-07
8880 51 F/C 127 rs397517518 0.3483 None gnomAD-3.1.2 6.57E-06
8880 51 F/C 127 rs397517518 0.3483 None gnomAD-4.0.0 2.54114E-05
8881 52 F/L 130 rs982955034 0.6872 None gnomAD-2.1.1 7.14E-06
8881 52 F/L 130 rs982955034 0.6872 None gnomAD-3.1.2 1.31E-05
8881 52 F/L 130 rs982955034 0.6872 None gnomAD-4.0.0 5.57812E-06
8881 52 F/S 130 None 0.6872 None gnomAD-4.0.0 1.59173E-06
8881 52 F/V 130 rs1174332291 0.6872 None gnomAD-3.1.2 6.57E-06
8881 52 F/V 130 rs1174332291 0.6872 None gnomAD-4.0.0 9.9166E-06
8882 53 N/S 131 rs1035818414 0.5477 None gnomAD-3.1.2 6.57E-06
8882 53 N/S 131 rs1035818414 0.5477 None gnomAD-4.0.0 6.57177E-06
8885 56 S/A 136 rs2077087035 0.0860 None gnomAD-3.1.2 6.57E-06
8885 56 S/A 136 rs2077087035 0.0860 None gnomAD-4.0.0 1.8593E-06
8885 56 S/C 136 rs951646862 0.0860 None gnomAD-4.0.0 1.59179E-06
8885 56 S/F 136 rs951646862 0.0860 None gnomAD-4.0.0 1.59179E-06
8885 56 S/P 136 None 0.0860 None gnomAD-4.0.0 2.05288E-06
8886 57 G/D 137 None 0.1290 None gnomAD-4.0.0 2.40069E-06
8886 57 G/S 137 rs72648991 0.1290 None gnomAD-2.1.1 4.02E-06
8886 57 G/S 137 rs72648991 0.1290 None gnomAD-4.0.0 2.2582E-05
8888 59 K/R 139 None 0.2992 None gnomAD-4.0.0 1.59166E-06
8889 60 I/V 140 rs879115210 0.0908 None gnomAD-4.0.0 3.60103E-06
8890 61 I/S 141 None 0.3661 None gnomAD-4.0.0 6.84291E-07
8890 61 I/T 141 rs1343627713 0.3661 None gnomAD-2.1.1 8.04E-06
8890 61 I/T 141 rs1343627713 0.3661 None gnomAD-3.1.2 6.57E-06
8890 61 I/T 141 rs1343627713 0.3661 None gnomAD-4.0.0 1.85928E-06
8891 62 N/H 143 None 0.6823 None gnomAD-4.0.0 1.59163E-06
8891 62 N/K 143 None 0.6823 None gnomAD-4.0.0 6.84285E-07
8891 62 N/S 143 rs146057575 0.6823 None gnomAD-2.1.1 3.46196E-04
8891 62 N/S 143 rs146057575 0.6823 None gnomAD-3.1.2 3.28528E-04
8891 62 N/S 143 rs146057575 0.6823 None 1000 genomes 1.59744E-03
8891 62 N/S 143 rs146057575 0.6823 None gnomAD-4.0.0 2.62133E-04
8892 63 V/I 144 rs747832107 0.1027 None gnomAD-2.1.1 6.43E-05
8892 63 V/I 144 rs747832107 0.1027 None gnomAD-3.1.2 8.54E-05
8892 63 V/I 144 rs747832107 0.1027 None gnomAD-4.0.0 3.844E-05
8893 64 A/V 145 rs1353521188 0.2316 None gnomAD-2.1.1 4.02E-06
8893 64 A/V 145 rs1353521188 0.2316 None gnomAD-4.0.0 1.59172E-06
8894 65 P/L 146 rs13398235 0.5969 None gnomAD-2.1.1 7.73921E-02
8894 65 P/L 146 rs13398235 0.5969 None gnomAD-3.1.2 7.94563E-02
8894 65 P/L 146 rs13398235 0.5969 None 1000 genomes 1.11422E-01
8894 65 P/L 146 rs13398235 0.5969 None gnomAD-4.0.0 4.72529E-02
8895 66 S/N 148 rs752659193 0.5248 None gnomAD-2.1.1 4.02E-06
8895 66 S/N 148 rs752659193 0.5248 None gnomAD-3.1.2 1.97E-05
8895 66 S/N 148 rs752659193 0.5248 None gnomAD-4.0.0 6.81732E-06
8895 66 S/T 148 rs752659193 0.5248 None gnomAD-2.1.1 4.02E-06
8895 66 S/T 148 rs752659193 0.5248 None gnomAD-4.0.0 1.02644E-05
8896 67 D/E 149 rs1198151007 0.1726 None gnomAD-2.1.1 4.02E-06
8896 67 D/E 149 rs1198151007 0.1726 None gnomAD-4.0.0 1.59171E-06
8896 67 D/G 149 None 0.1726 None gnomAD-4.0.0 1.59162E-06
8897 68 S/C 151 None 0.2842 None gnomAD-4.0.0 1.20034E-06
8898 69 G/R 152 None 0.2357 None gnomAD-4.0.0 1.36858E-06
8898 69 G/V 152 None 0.2357 None gnomAD-4.0.0 1.59167E-06
8899 70 V/I 153 rs765131331 0.4954 None gnomAD-4.0.0 2.73712E-06
8899 70 V/L 153 rs765131331 0.4954 None gnomAD-2.1.1 8.04E-06
8899 70 V/L 153 rs765131331 0.4954 None gnomAD-3.1.2 6.57E-06
8899 70 V/L 153 rs765131331 0.4954 None gnomAD-4.0.0 5.57778E-06
8900 71 Y/D 154 None 0.1235 None gnomAD-4.0.0 8.41302E-06
8901 72 S/C 155 rs1405906564 0.2102 None gnomAD-2.1.1 4.02E-06
8901 72 S/C 155 rs1405906564 0.2102 None gnomAD-3.1.2 6.57E-06
8901 72 S/C 155 rs1405906564 0.2102 None gnomAD-4.0.0 5.12501E-06
8901 72 S/G 155 rs1405906564 0.2102 None gnomAD-2.1.1 3.18E-05
8901 72 S/G 155 rs1405906564 0.2102 None gnomAD-3.1.2 6.57E-06
8901 72 S/G 155 rs1405906564 0.2102 None gnomAD-4.0.0 3.84376E-06
8903 74 E/Q 157 None 0.2846 None gnomAD-4.0.0 1.20032E-06
8904 75 V/L 158 None 0.0931 None gnomAD-4.0.0 6.84283E-07
8904 75 V/M 158 None 0.0931 None gnomAD-4.0.0 2.05285E-06
8905 76 Q/L 159 None 0.4540 None gnomAD-4.0.0 1.20032E-06
8906 77 N/K 161 rs776901808 0.1801 None gnomAD-2.1.1 4.02E-06
8906 77 N/K 161 rs776901808 0.1801 None gnomAD-4.0.0 1.36856E-06
8906 77 N/S 161 None 0.1801 None gnomAD-4.0.0 1.59162E-06
8907 78 P/A 162 None 0.7242 None gnomAD-2.1.1 4.02E-06
8907 78 P/A 162 None 0.7242 None gnomAD-3.1.2 2.63E-05
8907 78 P/A 162 None 0.7242 None gnomAD-4.0.0 3.09891E-06
8907 78 P/S 162 rs764261158 0.7242 None gnomAD-2.1.1 4.02E-06
8907 78 P/S 162 rs764261158 0.7242 None gnomAD-3.1.2 6.57E-06
8907 78 P/S 162 rs764261158 0.7242 None gnomAD-4.0.0 5.57805E-06
8907 78 P/T 162 rs764261158 0.7242 None gnomAD-4.0.0 4.10576E-06
8908 79 V/I 163 None 0.8052 None gnomAD-4.0.0 1.59176E-06
8910 81 K/Q 165 rs760765484 0.4225 None gnomAD-2.1.1 4.02E-06
8913 84 C/G 169 rs775565721 0.1630 None gnomAD-2.1.1 2.01E-05
8913 84 C/G 169 rs775565721 0.1630 None gnomAD-4.0.0 6.84347E-06
8914 85 T/A 171 rs1387091014 0.5951 None gnomAD-2.1.1 4.03E-06
8914 85 T/A 171 rs1387091014 0.5951 None gnomAD-3.1.2 6.57E-06
8914 85 T/A 171 rs1387091014 0.5951 None gnomAD-4.0.0 2.56299E-06
8915 86 A/G 172 rs536974988 0.1564 None gnomAD-2.1.1 2.15E-05
8915 86 A/G 172 rs536974988 0.1564 None gnomAD-3.1.2 3.29E-05
8915 86 A/G 172 rs536974988 0.1564 None 1000 genomes None
8915 86 A/G 172 rs536974988 0.1564 None gnomAD-4.0.0 2.23147E-05
8915 86 A/V 172 None 0.1564 None gnomAD-4.0.0 1.36892E-06
8918 89 Q/K 175 None 0.5431 None gnomAD-4.0.0 3.4231E-06
8918 89 Q/R 175 rs760040495 0.5431 None gnomAD-2.1.1 8.07E-06
8918 89 Q/R 175 rs760040495 0.5431 None gnomAD-4.0.0 3.42336E-06
8919 90 V/D 176 rs1560596105 0.2368 None gnomAD-2.1.1 4.04E-06
8919 90 V/D 176 rs1560596105 0.2368 None gnomAD-4.0.0 1.59417E-06
8919 90 V/I 176 rs774905023 0.2368 None gnomAD-2.1.1 1.61E-05
8919 90 V/I 176 rs774905023 0.2368 None gnomAD-4.0.0 8.90201E-06
8919 90 V/L 176 None 0.2368 None gnomAD-4.0.0 6.8477E-07