D438V (p.Asp438Val) variant of OPA1 (O60313)
D438V (p.Asp438Val) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal dominant optic atrophy classic form. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D438V (p.Asp438Val) variant details
- p.Asp438Val
- rs1734162973
- ClinGen CA355789689
- ClinVar RCV001090768
- ClinVar RCV004813732
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant optic atrophy classic form
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant optic atrophy classic form)
- EBI: Pathogenic (in OPA1)
- UniProt: Pathogenic (in OPA1)
- Structural context available
- Cited in: OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. (PMID 11440988)
- Cited in: Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. (PMID 11017079)