C46G (p.Cys46Gly) variant of ACVRL1 (Activin receptor type-1-like)
C46G (p.Cys46Gly) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HHT2. The record also includes published literature and structural context.
C46G (p.Cys46Gly) variant details
- p.Cys46Gly
- UniProt VAR 075233
- Pathogenic
- in HHT2
- Missense
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary… (PMID 26176610)
- Cited in: Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic… (PMID 10694922)