I433V (p.Ile433Val) variant of OPA1 (O60313)
I433V (p.Ile433Val) in OPA1 (O60313) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Autosomal dominant optic atrophy classic form. The record also includes structural context.
I433V (p.Ile433Val) variant details
- p.Ile433Val
- gnomAD rs1179683327
- Likely pathogenic
- Autosomal dominant optic atrophy classic form
- Missense
- ClinVar: Likely pathogenic (Autosomal dominant optic atrophy classic form)
- UniProt: Likely pathogenic
- Structural context available