R200W (p.Arg200Trp) variant of ACVRL1 (Activin receptor type-1-like)
R200W (p.Arg200Trp) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R200W (p.Arg200Trp) variant details
- p.Arg200Trp
- rs999380946
- ClinGen CA236362870
- ClinVar RCV000493276
- ClinVar RCV001865538
- Conflicting interpretations
- not provided; Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.91
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype; Telangiectasia, heredita)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)
- Cited in: International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. (PMID 19553198)