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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
19790 1 A/D 1 None 0.7052 None gnomAD-4.0.0 6.8448E-07
19790 1 A/V 1 rs1410710532 0.7052 None gnomAD-2.1.1 8.08E-06
19790 1 A/V 1 rs1410710532 0.7052 None gnomAD-3.1.2 6.58E-06
19790 1 A/V 1 rs1410710532 0.7052 None gnomAD-4.0.0 1.8599E-06
19791 2 N/I 2 rs2050467493 0.2054 None gnomAD-4.0.0 1.36889E-06
19792 3 M/V 3 None 0.1240 None gnomAD-4.0.0 1.59254E-06
19793 4 A/V 4 rs1433039414 0.3136 None gnomAD-2.1.1 3.19E-05
19793 4 A/V 4 rs1433039414 0.3136 None gnomAD-3.1.2 1.32E-05
19793 4 A/V 4 rs1433039414 0.3136 None gnomAD-4.0.0 5.12832E-06
19795 6 E/G 11 rs776032119 0.4777 None gnomAD-2.1.1 7.16E-06
19795 6 E/G 11 rs776032119 0.4777 None gnomAD-3.1.2 6.57E-06
19795 6 E/G 11 rs776032119 0.4777 None gnomAD-4.0.0 2.56374E-06
19795 6 E/K 11 None 0.4777 None gnomAD-4.0.0 1.59241E-06
19797 8 H/Y 14 rs2050464910 0.7202 None gnomAD-3.1.2 6.58E-06
19797 8 H/Y 14 rs2050464910 0.7202 None gnomAD-4.0.0 6.57592E-06
19798 9 I/M 16 rs772501285 0.1524 None gnomAD-2.1.1 4.03E-06
19798 9 I/M 16 rs772501285 0.1524 None gnomAD-4.0.0 1.59211E-06
19798 9 I/N 16 None 0.1524 None gnomAD-4.0.0 1.59213E-06
19798 9 I/T 16 None 0.1524 None gnomAD-4.0.0 1.59213E-06
19799 10 K/N 18 rs570087924 0.6665 None gnomAD-2.1.1 4.03E-06
19799 10 K/N 18 rs570087924 0.6665 None gnomAD-3.1.2 6.57E-06
19799 10 K/N 18 rs570087924 0.6665 None 1000 genomes 1.99681E-04
19799 10 K/N 18 rs570087924 0.6665 None gnomAD-4.0.0 6.56935E-06
19799 10 K/R 18 None 0.6665 None gnomAD-4.0.0 1.59208E-06
19800 11 V/A 23 rs747359962 0.4912 None gnomAD-4.0.0 1.02654E-05
19801 12 G/D 24 rs202206216 0.2761 None gnomAD-2.1.1 1.68147E-04
19801 12 G/D 24 rs202206216 0.2761 None gnomAD-3.1.2 1.31517E-04
19801 12 G/D 24 rs202206216 0.2761 None gnomAD-4.0.0 1.30167E-04
19801 12 G/V 24 None 0.2761 None gnomAD-4.0.0 6.8435E-07
19802 13 D/A 25 rs747743986 0.4363 None gnomAD-2.1.1 1.61E-05
19802 13 D/A 25 rs747743986 0.4363 None gnomAD-3.1.2 6.57E-06
19802 13 D/A 25 rs747743986 0.4363 None gnomAD-4.0.0 4.95857E-06
19802 13 D/N 25 rs771426226 0.4363 None gnomAD-2.1.1 4.03E-06
19802 13 D/N 25 rs771426226 0.4363 None gnomAD-4.0.0 1.59202E-06
19804 15 L/R 28 None 0.1759 None gnomAD-4.0.0 1.20032E-06
19807 18 S/R 31 None 0.1921 None gnomAD-4.0.0 6.84331E-07
19808 19 A/V 33 rs780766254 0.1328 None gnomAD-2.1.1 8.05E-06
19808 19 A/V 33 rs780766254 0.1328 None gnomAD-4.0.0 4.106E-06
19809 20 I/V 34 rs754507241 0.4580 None gnomAD-2.1.1 8.05E-06
19809 20 I/V 34 rs754507241 0.4580 None gnomAD-4.0.0 1.59192E-06
19810 21 I/S 35 None 0.1210 None gnomAD-4.0.0 1.59192E-06
19810 21 I/V 35 None 0.1210 None gnomAD-4.0.0 2.40064E-06
19812 23 G/A 40 None 0.1849 None gnomAD-4.0.0 1.20032E-06
19812 23 G/R 40 None 0.1849 None gnomAD-4.0.0 7.52761E-06
19814 25 P/S 42 None 0.4219 None gnomAD-4.0.0 1.20032E-06
19815 26 F/L 43 None 0.3618 None gnomAD-4.0.0 1.20032E-06
19816 27 P/L 44 rs2050451643 0.1048 None gnomAD-4.0.0 1.59184E-06
19818 29 V/G 46 rs1371676567 0.2686 None gnomAD-2.1.1 4.02E-06
19819 30 T/I 47 rs758287054 0.4307 None gnomAD-2.1.1 1.43E-05
19819 30 T/I 47 rs758287054 0.4307 None gnomAD-3.1.2 3.95E-05
19819 30 T/I 47 rs758287054 0.4307 None gnomAD-4.0.0 4.95871E-06
19819 30 T/S 47 rs758287054 0.4307 None gnomAD-2.1.1 4.02E-06
19819 30 T/S 47 rs758287054 0.4307 None gnomAD-4.0.0 6.84318E-07
19820 31 W/G 48 None 0.1982 None gnomAD-4.0.0 4.80129E-06
19822 33 K/E 50 None 0.1361 None gnomAD-4.0.0 1.20032E-06
19823 34 E/G 51 None 0.4138 None gnomAD-4.0.0 1.59182E-06
19823 34 E/K 51 None 0.4138 None gnomAD-4.0.0 1.59184E-06
19825 36 R/T 55 rs376465623 0.7936 None gnomAD-2.1.1 6.08E-05
19825 36 R/T 55 rs376465623 0.7936 None gnomAD-3.1.2 5.26E-05
19825 36 R/T 55 rs376465623 0.7936 None gnomAD-4.0.0 1.02269E-04
19827 38 A/P 58 None 0.2662 None gnomAD-4.0.0 1.59184E-06
19827 38 A/T 58 rs1486455831 0.2662 None gnomAD-2.1.1 3.19E-05
19827 38 A/T 58 rs1486455831 0.2662 None gnomAD-3.1.2 6.58E-06
19827 38 A/T 58 rs1486455831 0.2662 None gnomAD-4.0.0 6.57791E-06
19827 38 A/V 58 None 0.2662 None gnomAD-4.0.0 1.20032E-06
19828 39 P/S 59 None 0.2778 None gnomAD-4.0.0 1.20032E-06
19829 40 T/A 70 rs1436610603 1.0115 None gnomAD-2.1.1 4.03E-06
19829 40 T/A 70 rs1436610603 1.0115 None gnomAD-4.0.0 1.36864E-06
19829 40 T/I 70 rs754082474 1.0115 None gnomAD-2.1.1 4.03E-06
19829 40 T/I 70 rs754082474 1.0115 None gnomAD-4.0.0 3.18372E-06
19829 40 T/S 70 rs754082474 1.0115 None gnomAD-2.1.1 4.03E-06
19829 40 T/S 70 rs754082474 1.0115 None gnomAD-3.1.2 6.58E-06
19829 40 T/S 70 rs754082474 1.0115 None gnomAD-4.0.0 6.57687E-06
19830 41 K/R 73 rs764259290 0.3923 None gnomAD-2.1.1 1.79E-05
19830 41 K/R 73 rs764259290 0.3923 None gnomAD-3.1.2 9.86E-05
19830 41 K/R 73 rs764259290 0.3923 None gnomAD-4.0.0 2.3068E-05
19831 42 A/V 109 rs760784061 0.1764 None gnomAD-2.1.1 8.05E-06
19831 42 A/V 109 rs760784061 0.1764 None gnomAD-4.0.0 4.77553E-06
19832 43 R/I 115 rs1405596883 0.6419 None gnomAD-4.0.0 3.18366E-06
19832 43 R/K 115 rs1405596883 0.6419 None gnomAD-2.1.1 4.03E-06
19832 43 R/K 115 rs1405596883 0.6419 None gnomAD-4.0.0 1.59183E-06
19833 44 I/L 121 rs2050442222 0.3092 None gnomAD-3.1.2 6.57E-06
19833 44 I/L 121 rs2050442222 0.3092 None gnomAD-4.0.0 2.56307E-05
19833 44 I/S 121 None 0.3092 None gnomAD-4.0.0 1.20032E-06
19835 46 V/G 123 rs727504511 0.4605 None gnomAD-2.1.1 6.44E-05
19835 46 V/G 123 rs727504511 0.4605 None gnomAD-3.1.2 3.29E-05
19835 46 V/G 123 rs727504511 0.4605 None gnomAD-4.0.0 4.58652E-05
19838 49 V/A 134 None 0.6374 None gnomAD-4.0.0 3.60097E-06
19838 49 V/F 134 rs767665016 0.6374 None gnomAD-2.1.1 4.03E-06
19838 49 V/F 134 rs767665016 0.6374 None gnomAD-4.0.0 6.84322E-07
19838 49 V/L 134 rs767665016 0.6374 None gnomAD-2.1.1 4.03E-06
19838 49 V/L 134 rs767665016 0.6374 None gnomAD-4.0.0 4.10593E-06
19839 50 G/D 135 rs1256321814 0.1198 None gnomAD-2.1.1 4.03E-06
19839 50 G/D 135 rs1256321814 0.1198 None gnomAD-4.0.0 2.05296E-06
19843 54 E/K 139 rs1185186867 0.2267 None gnomAD-2.1.1 4.03E-06
19843 54 E/K 139 rs1185186867 0.2267 None gnomAD-4.0.0 5.47452E-06
19845 56 R/C 141 rs1232069163 0.6899 None gnomAD-2.1.1 3.19E-05
19845 56 R/C 141 rs1232069163 0.6899 None gnomAD-3.1.2 6.58E-06
19845 56 R/C 141 rs1232069163 0.6899 None gnomAD-4.0.0 4.95855E-06
19845 56 R/H 141 rs201457934 0.6899 None gnomAD-2.1.1 1.04721E-04
19845 56 R/H 141 rs201457934 0.6899 None gnomAD-3.1.2 2.63E-05
19845 56 R/H 141 rs201457934 0.6899 None gnomAD-4.0.0 4.46261E-05
19845 56 R/L 141 rs201457934 0.6899 None gnomAD-2.1.1 1.21E-05
19845 56 R/L 141 rs201457934 0.6899 None gnomAD-4.0.0 2.73727E-06
19846 57 N/H 143 rs749738999 0.7502 None gnomAD-2.1.1 4.03E-06
19846 57 N/H 143 rs749738999 0.7502 None gnomAD-4.0.0 3.18366E-06
19848 59 A/D 145 None 0.2330 None gnomAD-4.0.0 6.84324E-07
19848 59 A/V 145 rs776318202 0.2330 None gnomAD-2.1.1 4.03E-06
19848 59 A/V 145 rs776318202 0.2330 None gnomAD-4.0.0 6.84324E-07
19849 60 H/Q 146 None 0.8780 None gnomAD-4.0.0 1.5919E-06
19852 63 G/S 151 rs746700153 0.2123 None gnomAD-2.1.1 4.03E-06
19852 63 G/S 151 rs746700153 0.2123 None gnomAD-4.0.0 2.05299E-06
19853 64 G/R 152 None 0.1631 None gnomAD-4.0.0 1.59196E-06
19854 65 I/T 153 rs1291718498 0.4406 None gnomAD-2.1.1 4.03E-06
19855 66 Y/N 154 rs779395388 0.1316 None gnomAD-2.1.1 4.03E-06
19855 66 Y/N 154 rs779395388 0.1316 None gnomAD-4.0.0 6.36787E-06
19856 67 S/F 155 None 0.2143 None gnomAD-4.0.0 1.59196E-06
19856 67 S/Y 155 rs1356252369 0.2143 None gnomAD-2.1.1 4.03E-06
19856 67 S/Y 155 rs1356252369 0.2143 None gnomAD-4.0.0 1.59196E-06
19857 68 L/S 156 rs547180437 0.1021 None gnomAD-3.1.2 6.57E-06
19857 68 L/S 156 rs547180437 0.1021 None 1000 genomes 1.99681E-04
19857 68 L/S 156 rs547180437 0.1021 None gnomAD-4.0.0 1.54942E-05
19858 69 T/I 157 rs757911359 0.2454 None gnomAD-2.1.1 7.66E-05
19858 69 T/I 157 rs757911359 0.2454 None gnomAD-3.1.2 1.32E-05
19858 69 T/I 157 rs757911359 0.2454 None gnomAD-4.0.0 4.27689E-05
19858 69 T/K 157 None 0.2454 None gnomAD-4.0.0 6.84349E-07
19858 69 T/R 157 rs757911359 0.2454 None gnomAD-3.1.2 6.58E-06
19858 69 T/R 157 rs757911359 0.2454 None gnomAD-4.0.0 1.85952E-06
19859 70 V/M 158 rs778885421 0.1033 None gnomAD-2.1.1 1.21E-05
19859 70 V/M 158 rs778885421 0.1033 None gnomAD-4.0.0 3.42179E-06
19860 71 E/D 159 rs757011726 0.3990 None gnomAD-2.1.1 4.03E-06
19860 71 E/D 159 rs757011726 0.3990 None gnomAD-3.1.2 6.57E-06
19860 71 E/D 159 rs757011726 0.3990 None gnomAD-4.0.0 6.57488E-06
19860 71 E/K 159 None 0.3990 None gnomAD-4.0.0 2.73746E-06
19861 72 N/S 161 None 0.1228 None gnomAD-4.0.0 1.59214E-06
19862 73 P/L 162 rs16866406 0.6076 None gnomAD-2.1.1 1.7341E-01
19862 73 P/L 162 rs16866406 0.6076 None gnomAD-3.1.2 1.42446E-01
19862 73 P/L 162 rs16866406 0.6076 None 1000 genomes 2.13059E-01
19862 73 P/L 162 rs16866406 0.6076 None gnomAD-4.0.0 1.53377E-01
19863 74 A/D 163 rs1416865059 0.2656 None gnomAD-2.1.1 4.03E-06
19863 74 A/D 163 rs1416865059 0.2656 None gnomAD-4.0.0 1.59233E-06
19864 75 G/D 164 rs763969580 0.2436 None gnomAD-2.1.1 8.07E-06
19864 75 G/D 164 rs763969580 0.2436 None gnomAD-3.1.2 1.32E-05
19864 75 G/D 164 rs763969580 0.2436 None gnomAD-4.0.0 7.43885E-06
19865 76 S/L 165 None 0.5061 None gnomAD-4.0.0 1.59307E-06
19868 79 V/I 169 None 0.3020 None gnomAD-4.0.0 6.84559E-07
19870 81 V/G 172 None 0.1081 None gnomAD-4.0.0 1.59326E-06
19871 82 K/E 173 rs1475978640 0.3468 None gnomAD-2.1.1 8.08E-06
19871 82 K/E 173 rs1475978640 0.3468 None gnomAD-3.1.2 6.57E-06
19871 82 K/E 173 rs1475978640 0.3468 None gnomAD-4.0.0 3.72028E-06
19871 82 K/T 173 rs756249207 0.3468 None gnomAD-2.1.1 8.08E-06
19871 82 K/T 173 rs756249207 0.3468 None gnomAD-4.0.0 3.18692E-06
19873 84 L/F 175 None 0.3732 None gnomAD-4.0.0 6.84901E-07
19873 84 L/P 175 rs727503589 0.3732 None gnomAD-2.1.1 1.21E-05
19873 84 L/P 175 rs727503589 0.3732 None gnomAD-4.0.0 8.21947E-06
19873 84 L/V 175 rs1185370817 0.3732 None gnomAD-2.1.1 4.04E-06
19873 84 L/V 175 rs1185370817 0.3732 None gnomAD-4.0.0 6.84901E-07
19874 85 V/A 177 rs1339819720 0.1498 None gnomAD-3.1.2 6.57E-06
19874 85 V/A 177 rs1339819720 0.1498 None gnomAD-4.0.0 2.02997E-06
19874 85 V/I 177 None 0.1498 None gnomAD-4.0.0 1.59549E-06