I432V (p.Ile432Val) variant of OPA1 (O60313)
I432V (p.Ile432Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
I432V (p.Ile432Val) variant details
- p.Ile432Val
- rs387906899
- ClinGen CA129226
- ClinVar RCV000023414
- ClinVar RCV000508763
- Likely pathogenic
- Autosomal dominant optic atrophy classic form
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- AlphaMissense 0.37
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Autosomal dominant optic atrophy classic form)
- EBI: Pathogenic (in OPA1)
- UniProt: Pathogenic (in OPA1)
- Population evidence available
- Structural context available
- Cited in: OPA1 in multiple mitochondrial DNA deletion disorders. (PMID 19029523)
- Cited in: Primary Mitochondrial Disorders Overview. (PMID 20301403)