R67W (p.Arg67Trp) variant of ACVRL1 (Activin receptor type-1-like)
R67W (p.Arg67Trp) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Telangiectasia, hereditary hemorrhagic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R67W (p.Arg67Trp) variant details
- p.Arg67Trp
- rs1085307405
- ClinGen CA384897887
- NCI-TCGA Cosmic COSV6636
- cosmic curated COSV66360
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Telangiectasia, hereditary hemorrhagic
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.72
- AlphaMissense 0.37
- MetaLR 0.75
- MetaSVM 0.55
- CADD 23.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Telangiectasia, heredita)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Cited in: Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel… (PMID 15712270)
- Cited in: Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic… (PMID 10694922)