C77R (p.Cys77Arg) variant of ACVRL1 (Activin receptor type-1-like)
C77R (p.Cys77Arg) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2. The record also includes published literature and structural context.
C77R (p.Cys77Arg) variant details
- p.Cys77Arg
- rs2540158883
- ClinGen CA384897953
- ClinVar RCV002428464
- ClinVar RCV006471202
- Likely pathogenic
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Likely pathogenic (in HHT2)
- UniProt: Likely pathogenic (in HHT2)
- Structural context available
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)
- Cited in: International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. (PMID 19553198)