R47L (p.Arg47Leu) variant of ACVRL1 (Activin receptor type-1-like)
R47L (p.Arg47Leu) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HHT2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R47L (p.Arg47Leu) variant details
- p.Arg47Leu
- ExAC rs774389618
- TOPMed rs774389618
- gnomAD rs774389618
- Pathogenic
- in HHT2
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.35
- CADD 9.51
- PolyPhen-2 0.01
- SIFT 0.43
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available