C90W (p.Cys90Trp) variant of ACVRL1 (Activin receptor type-1-like)
C90W (p.Cys90Trp) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2. The record also includes published literature and structural context.
C90W (p.Cys90Trp) variant details
- p.Cys90Trp
- rs556168617
- ClinGen CA384898044
- ClinVar RCV002431169
- ClinVar RCV003102134
- Pathogenic
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- ClinVar: Pathogenic (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)