V395M (p.Val395Met) variant of OPA1 (O60313)
V395M (p.Val395Met) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant optic atrophy classic form. The record also includes structural context.
V395M (p.Val395Met) variant details
- p.Val395Met
- rs2474871913
- ClinGen CA16616740
- ClinVar RCV003447731
- Likely pathogenic
- Autosomal dominant optic atrophy classic form
- Missense
- ClinVar: Likely pathogenic (Autosomal dominant optic atrophy classic form)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available