C51Y (p.Cys51Tyr) variant of ACVRL1 (Activin receptor type-1-like)
C51Y (p.Cys51Tyr) 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 not provided; Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C51Y (p.Cys51Tyr) variant details
- p.Cys51Tyr
- rs863223409
- ClinGen CA324720
- ClinVar RCV000200161
- ClinVar RCV001857712
- Pathogenic
- not provided; Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (not provided; Cardiovascular phenotype; Telangiectasia, heredita)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic… (PMID 10694922)
- Cited in: Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. (PMID 10767348)