I24V (p.Ile24Val) variant of OPA1 (O60313)
I24V (p.Ile24Val) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Autosomal dominant optic atrophy classic form; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I24V (p.Ile24Val) variant details
- p.Ile24Val
- rs201520438
- ClinGen CA321129
- ClinVar RCV000332084
- ClinVar RCV000488273
- Conflicting interpretations
- not specified; Autosomal dominant optic atrophy classic form; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.20
- CADD 7.25
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Conflicting classifications of pathogenicity (not specified; Autosomal dominant optic atrophy classic form; no)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.13)
- Structural context available