A8S (p.Ala8Ser) variant of OPA1 (O60313)
A8S (p.Ala8Ser) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Autosomal dominant optic atrophy classic form. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- rs794726939
- ClinGen CA274916
- ClinVar RCV000173452
- ClinVar RCV000723425
- Uncertain significance
- not provided; Autosomal dominant optic atrophy classic form
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.62
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided; Autosomal dominant optic atrophy classic form)
- EBI: Variant of uncertain significance (in OPA1)
- UniProt: Uncertain significance (in OPA1)
- Population evidence available
- Structural context available
- Cited in: OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. (PMID 16617242)
- Cited in: Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. (PMID 11017079)