R47W (p.Arg47Trp) variant of ACVRL1 (Activin receptor type-1-like)
R47W (p.Arg47Trp) 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 Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R47W (p.Arg47Trp) variant details
- p.Arg47Trp
- rs768072967
- ClinGen CA6572822
- NCI-TCGA Cosmic COSV6636
- cosmic curated COSV66360
- Uncertain significance
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.40
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Likely pathogenic (in HHT2)
- UniProt: Likely pathogenic (in HHT2)
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)