R28W (p.Arg28Trp) variant of ACVRL1 (Activin receptor type-1-like)
R28W (p.Arg28Trp) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Telangiectasia, hereditary hemorrhagic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R28W (p.Arg28Trp) variant details
- p.Arg28Trp
- rs761650726
- ClinGen CA6572808
- cosmic curated COSV10469
- ClinVar RCV000994925
- Uncertain significance
- Cardiovascular phenotype; not provided; Telangiectasia, hereditary hemorrhagic
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.37
- CADD 16.90
- PolyPhen-2 0.39
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Telangiectasia, heredita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)