F8WBW9 · F8WBW9_HUMAN

  • Protein
    catechol O-methyltransferase
  • Gene
    COMT
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    2/5

Variants

119920406080100120140160180
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs5513120682P>L1000Genomes
ExAC
TOPMed
gnomAD
rs5513120682P>R1000Genomes
ExAC
TOPMed
gnomAD
rs7591813243E>KExAC
gnomAD
rs11649048033E>VgnomAD
RCV001028893
rs1160435070
5P>LDrug response (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001028891
rs1601526877
6P>LDrug response (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs7533022837L>PExAC
TOPMed
gnomAD
rs7533022837L>RExAC
TOPMed
gnomAD
rs19422175998L>REnsembl
rs145704940610A>VTOPMed
rs136062914711A>TgnomAD
rs141521610712V>MTOPMed
rs76439220213L>FExAC
TOPMed
gnomAD
rs194221830515G>ATOPMed
rs194221837716L>PEnsembl
rs143951339318L>QEnsembl
rs75742729520V>EExAC
gnomAD
COSV52889551
rs559479480
20V>Lcosmic curated
TOPMed
gnomAD
rs55947948020V>MTOPMed
gnomAD
rs78146167721V>LExAC
TOPMed
gnomAD
rs78146167721V>MExAC
TOPMed
gnomAD
rs97064522323L>QTOPMed
gnomAD
rs120932393623L>VEnsembl
rs120333965524L>MgnomAD
rs75049038225L>FExAC
TOPMed
gnomAD
rs194221998026L>REnsembl
rs127817876629W>STOPMed
rs136325342730G>AgnomAD
rs13922738330G>S1000Genomes
TOPMed
gnomAD
rs93165314731W>*TOPMed
gnomAD
rs74806683032G>DExAC
TOPMed
gnomAD
rs13862838232G>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs13862838232G>S1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs194222090533L>PEnsembl
VAR_013925
rs6270
34C>S
UniProt
Ensembl
dbSNP
rs77185067135L>FExAC
rs77744192236I>LExAC
TOPMed
gnomAD
rs77070036437G>RExAC
TOPMed
gnomAD
rs77070036437G>SExAC
TOPMed
gnomAD
rs75909141738W>*ExAC
gnomAD
COSV52889045
rs75012854
39N>Dcosmic curated
ExAC
TOPMed
gnomAD
rs7474558039N>KBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs77609472839N>SExAC
gnomAD
rs194222217840E>GEnsembl
rs98409804340E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs98409804340E>QgnomAD
rs214616501042I>VEnsembl
rs126161794443L>PgnomAD
rs76229726746I>NExAC
gnomAD
rs76229726746I>SExAC
gnomAD
rs194222249949L>VTOPMed
gnomAD
rs214616505350L>FEnsembl
rs56929413451M>TEnsembl
COSV108025530
rs1942222832
52G>Dcosmic curated
Ensembl
rs117963243754T>AgnomAD
rs194222307954T>SEnsembl
rs214616511555K>MEnsembl
rs124377362956E>KTOPMed
gnomAD
rs75614590557Q>*ExAC
gnomAD
rs75614590557Q>KExAC
gnomAD
rs214616513657Q>REnsembl
COSV52889010
rs1480698560
58R>Ccosmic curated
TOPMed
gnomAD
rs76646968158R>HExAC
TOPMed
gnomAD
rs146686531359I>TgnomAD
rs75262096059I>VExAC
gnomAD
rs194222386462H>YTOPMed
gnomAD
rs74676463963V>AExAC
TOPMed
gnomAD
rs132615911263V>MTOPMed
gnomAD
rs77427727165Q>REnsembl
rs128179109566H>RgnomAD
rs140483010866H>YgnomAD
rs146463486767A>TTOPMed
COSV99258369
rs757163626
67A>Vcosmic curated
ExAC
TOPMed
gnomAD
rs125096031968E>KgnomAD
rs214616527269P>LEnsembl
rs14990976770G>R1000Genomes
ExAC
TOPMed
gnomAD
rs14990976770G>W1000Genomes
ExAC
TOPMed
gnomAD
VAR_013926
CA127289
COSV52889836
RCV000019157
RCV001028887
rs6267
72A>S
correlated with reduced enzyme activity; associated with increased risk for schizophrenia (UniProt)
Schizophrenia, susceptibility to (ClinVar)
Benign (UniProt)UniProt
ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs626772A>TRisk factor (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs126659211873Q>*gnomAD
rs136401381173Q>RTOPMed
rs77337320175V>AExAC
TOPMed
gnomAD
rs99920042975V>LTOPMed
gnomAD
rs99920042975V>MTOPMed
gnomAD
rs76089919176L>QExAC
gnomAD
rs194222625277E>GEnsembl
rs194222618877E>KTOPMed
rs116452060378A>TgnomAD
rs75385681479I>TExAC
TOPMed
gnomAD
rs76637798479I>VExAC
gnomAD
rs194222664881T>SEnsembl
rs194222682682Y>HTOPMed
rs14862088783C>RESP
ExAC
TOPMed
gnomAD
rs19969015784E>*1000Genomes
ExAC
TOPMed
gnomAD
COSV52889265
rs199690157
84E>Kcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs132492884985Q>PgnomAD
COSV107226362
rs1221732999
88W>*cosmic curated
gnomAD
RCV001028883
rs373611092
90M>LDrug response (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs125595297190M>TgnomAD
rs37361109290M>VDrug response (Ensembl)ExAC
TOPMed
gnomAD
rs77484793391N>DgnomAD
rs214616556491N>IEnsembl
rs75582598091N>KExAC
TOPMed
gnomAD
rs1330628192V>MExAC
TOPMed
gnomAD
rs194222843994D>EEnsembl
rs52831178494D>GgnomAD
COSV52890901
rs76452330
94D>NDrug response (Ensembl)cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
RCV001028882
rs76452330
94D>YDrug response (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs144347053095K>EgnomAD
rs144347053095K>QgnomAD
rs160152754596K>EEnsembl
rs117309165097G>DgnomAD
rs146297637198K>*gnomAD
rs75042811799I>FExAC
gnomAD
rs76034839799I>MExAC
TOPMed
gnomAD
rs753372657100V>AExAC
TOPMed
gnomAD
rs61910731100V>LExAC
TOPMed
gnomAD
rs61910731100V>MExAC
TOPMed
gnomAD
rs1283686236101D>GgnomAD
VAR_020274
RCV000901855
rs5031015
102A>TBenign (Ensembl, ClinVar)UniProt
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs778219405103V>LExAC
TOPMed
gnomAD
COSV104569336
rs778219405
103V>Mcosmic curated
ExAC
TOPMed
gnomAD
rs201922528104I>FExAC
TOPMed
gnomAD
rs1942255817105Q>REnsembl
rs151117263106E>DESP
ExAC
TOPMed
gnomAD
COSV104392736
rs200563082
106E>Gcosmic curated
1000Genomes
ExAC
gnomAD
rs1490987788106E>KTOPMed
gnomAD
rs199637204107H>RExAC
TOPMed
gnomAD
rs1188559680108Q>*gnomAD
rs2146169248109P>HEnsembl
rs566681525111V>L1000Genomes
ExAC
TOPMed
gnomAD
rs566681525111V>M1000Genomes
ExAC
TOPMed
gnomAD
rs1168438991113L>VgnomAD
rs749349703115L>PExAC
gnomAD
rs768889221117A>SExAC
gnomAD
RCV001029695
rs1601529201
117A>VDrug response (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1364785401118Y>SgnomAD
rs1174983685120G>DgnomAD
rs1942257378120G>SEnsembl
rs760676485121Y>*ExAC
gnomAD
rs1942257641122S>PgnomAD
rs766020740123A>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs1942257787124V>ETOPMed
rs199710929125R>CESP
ExAC
TOPMed
gnomAD
rs199710929125R>GESP
ExAC
TOPMed
gnomAD
rs759305975125R>HExAC
TOPMed
gnomAD
rs1291664538126M>IgnomAD
rs764846399128R>CExAC
TOPMed
gnomAD
rs752384128128R>HExAC
TOPMed
gnomAD
rs757861911130L>PExAC
TOPMed
gnomAD
rs757861911130L>RExAC
TOPMed
gnomAD
rs1387220343131S>PgnomAD
rs1257420392132P>LTOPMed
gnomAD
rs751999652133G>EExAC
gnomAD
rs1942259370134A>TEnsembl
rs757782035134A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs1387841271135R>WgnomAD
rs746224273136L>FExAC
gnomAD
rs746224273136L>IExAC
gnomAD
rs1286744830138T>PgnomAD
rs141726378139I>MESP
ExAC
TOPMed
gnomAD
rs749544037139I>VExAC
TOPMed
gnomAD
rs575273220140E>KExAC
TOPMed
gnomAD
RCV000972987
rs150437940
141I>VLikely benign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1340949277142N>DTOPMed
gnomAD
rs1285468169142N>KTOPMed
gnomAD
rs1569133686142N>STOPMed
gnomAD
rs145228139143P>RVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs759340648144D>NExAC
TOPMed
gnomAD
rs765045592145C>YExAC
TOPMed
gnomAD
rs4986871146A>GTOPMed
VAR_020275
rs4986871
146A>VUniProt
TOPMed
dbSNP
COSV108025541
rs567862500
147A>Tcosmic curated
ExAC
TOPMed
gnomAD
rs2047729050149T>IgnomAD
rs1942261200149T>SEnsembl
rs188086045150Q>K1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768039922151R>QExAC
TOPMed
gnomAD
rs756769871151R>WExAC
TOPMed
gnomAD
rs1452856813152M>IgnomAD
rs1476479829152M>TTOPMed
gnomAD
rs756499908156A>TExAC
gnomAD
rs1445081098157G>ATOPMed
gnomAD
rs1445081098157G>VTOPMed
gnomAD
VAR_005139
CA127287
COSV52889256
RCV000019156
RCV000244083
RCV001028880
RCV003633481
rs4680
158V>M
allele COMT*2; associated with low enzyme activity and thermolability; may increase the tendency to develop high blood pressure and abdominal obesity (UniProt)
CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM (ClinVar)
Schizophrenia (ClinVar)
Benign (Ensembl, ClinVar, UniProt)UniProt
ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001028879
rs1601529589
160D>EDrug response (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1050746597160D>HTOPMed
gnomAD
rs1050746597160D>NTOPMed
gnomAD
rs1050746597160D>YTOPMed
gnomAD
rs768474006162V>EExAC
TOPMed
gnomAD
rs749053677162V>LExAC
TOPMed
gnomAD
rs749053677162V>MExAC
TOPMed
gnomAD
rs774007307163C>GExAC
gnomAD
rs1387519472164R>KgnomAD
rs1387519472164R>MgnomAD
rs376721753165D>HESP
ExAC
TOPMed
gnomAD
rs376721753165D>NESP
ExAC
TOPMed
gnomAD
rs1483654105166G>DTOPMed
gnomAD
rs1285622155169S>CgnomAD
rs1601530294171R>KDrug response (Ensembl)Ensembl
rs1320403365171R>WEnsembl
rs998358228172T>ATOPMed
gnomAD
rs371344497172T>MESP
ExAC
TOPMed
gnomAD
rs998358228172T>STOPMed
gnomAD
rs759939161173W>*ExAC
TOPMed
gnomAD
rs1053149857173W>*Ensembl
rs759939161173W>CExAC
TOPMed
gnomAD
rs765538067174A>PExAC
TOPMed
gnomAD
rs1601530351174A>VDrug response (Ensembl)Ensembl
rs1942277265175L>MgnomAD
rs1942277338175L>PTOPMed
gnomAD
rs1490738431176T>STOPMed
gnomAD
rs1205397118178A>TTOPMed
gnomAD
rs1942277722178A>VTOPMed
rs1942277882179V>ATOPMed
rs1260579240179V>IgnomAD
rs1942278158180P>QEnsembl
rs764440706180P>SExAC
gnomAD
rs2146171738181G>DEnsembl
rs1410929509186W>*TOPMed
gnomAD
rs1410929509186W>CTOPMed
gnomAD
rs751619226187S>RExAC
gnomAD
rs749246793188V>GExAC
gnomAD
rs746938556188V>ILikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs1158306516189P>RTOPMed
gnomAD
COSV52889777
rs778579471
190G>Ecosmic curated
ExAC
gnomAD
rs79048885190G>RBenign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1601530433191H>YEnsembl
rs768611995192H>QExAC
TOPMed
gnomAD
rs145561434193P>AESP
ExAC
TOPMed
gnomAD
rs138056183193P>LESP
TOPMed
rs145561434193P>TESP
ExAC
TOPMed
gnomAD
rs1942279656194P>STOPMed
rs1267720875195A>STOPMed
gnomAD
rs1321744375196E>*TOPMed
rs1044873425197E>DEnsembl
rs772965142197E>KExAC
gnomAD
rs746487090198E>KExAC
gnomAD
RCV001579551
rs770596060
198E>VVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1942280232199V>IgnomAD
rs1942280305200*>CTOPMed
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