G272D (p.Gly272Asp) variant of COQ8A (Q8NI60)
G272D (p.Gly272Asp) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive ataxia due to ubiquinone deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G272D (p.Gly272Asp) variant details
- p.Gly272Asp
- rs119468006
- ClinGen CA116402
- ClinVar RCV000003824
- UniProt VAR 044403
- Pathogenic
- Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.84
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 1.02
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Autosomal recessive ataxia due to ubiquinone deficiency)
- EBI: Pathogenic (in COQ10D4)
- UniProt: Pathogenic (in COQ10D4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Progression despite replacement of a myopathic form of coenzyme Q10 defect. (PMID 15326254)
- Cited in: CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. (PMID 18319072)