R47P (p.Arg47Pro) variant of ACVRL1 (Activin receptor type-1-like)
R47P (p.Arg47Pro) 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; Telangiectasia, hereditary hemorrhagic, type 2; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R47P (p.Arg47Pro) variant details
- p.Arg47Pro
- rs774389618
- ClinGen CA16607361
- ClinVar RCV000426666
- ClinVar RCV002272232
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.59
- CADD 13.40
- PolyPhen-2 0.27
- SIFT 0.15
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary… (PMID 26176610)
- Cited in: Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic… (PMID 10694922)