W50C (p.Trp50Cys) variant of ACVRL1 (Activin receptor type-1-like)
W50C (p.Trp50Cys) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
W50C (p.Trp50Cys) variant details
- p.Trp50Cys
- rs121909285
- ClinGen CA384897711
- ClinVar RCV001959004
- UniProt VAR 006204
- Pathogenic
- Cardiovascular phenotype; not provided; Telangiectasia, hereditary hemorrhagic
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.64
- CADD 25.60
- PolyPhen-2 0.91
- SIFT 0.17
- ClinVar: Pathogenic (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)