C344R (p.Cys344Arg) variant of ACVRL1 (Activin receptor type-1-like)
C344R (p.Cys344Arg) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C344R (p.Cys344Arg) variant details
- p.Cys344Arg
- rs1592224412
- ClinGen CA384901730
- ClinVar RCV000812604
- ClinVar RCV001003754
- Pathogenic/Likely pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular p)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for… (PMID 16752392)
- Cited in: Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic… (PMID 10694922)