R47G (p.Arg47Gly) variant of ACVRL1 (Activin receptor type-1-like)
R47G (p.Arg47Gly) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in HHT2. The record also includes structural context.
R47G (p.Arg47Gly) variant details
- p.Arg47Gly
- ExAC rs768072967
- TOPMed rs768072967
- gnomAD rs768072967
- Likely pathogenic
- in HHT2
- Missense
- EBI: Likely pathogenic (in HHT2)
- UniProt: Likely pathogenic (in HHT2)
- Structural context available