D330H (p.Asp330His) variant of ACVRL1 (Activin receptor type-1-like)
D330H (p.Asp330His) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary hemorrhagic telangiectasia. The record also includes structural context.
D330H (p.Asp330His) variant details
- p.Asp330His
- rs2540164775
- ClinGen CA384901452
- ClinVar RCV003994713
- Likely pathogenic
- Hereditary hemorrhagic telangiectasia
- Missense
- ClinVar: Likely pathogenic (Hereditary hemorrhagic telangiectasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available