C344Y (p.Cys344Tyr) variant of ACVRL1 (Activin receptor type-1-like)
C344Y (p.Cys344Tyr) 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; not provided; Telangiectasia, hereditary hemorrhagic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
C344Y (p.Cys344Tyr) variant details
- p.Cys344Tyr
- rs28936688
- ClinGen CA119408
- ClinVar RCV000008742
- ClinVar RCV000008743
- Pathogenic
- Cardiovascular phenotype; not provided; Telangiectasia, hereditary hemorrhagic
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.93
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Telangiectasia, heredita)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. (PMID 10767348)
- Cited in: Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to… (PMID 14684682)