V910D (p.Val910Asp) variant of OPA1 (O60313)
V910D (p.Val910Asp) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
V910D (p.Val910Asp) variant details
- p.Val910Asp
- rs387906901
- ClinGen CA129235
- ClinVar RCV000023417
- UniProt VAR 072132
- Pathogenic
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and n
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Optic atrophy with or without deafness, ophthalmoplegia, myopath)
- EBI: Pathogenic (in DOA+)
- UniProt: Pathogenic (in DOA+)
- Structural context available
- Cited in: OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. (PMID 18158317)
- Cited in: OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane… (PMID 20185555)