A304V (p.Ala304Val) variant of COQ8A (Q8NI60)
A304V (p.Ala304Val) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive ataxia due to ubiquinone deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A304V (p.Ala304Val) variant details
- p.Ala304Val
- rs748118737
- ClinGen CA1425212
- cosmic curated COSV10082
- ClinVar RCV000427376
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.71
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive ataxia due to ubiquinone defic)
- EBI: Pathogenic (in COQ10D4)
- UniProt: Pathogenic (in COQ10D4)
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Cited in: Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. (PMID 22036850)
- Cited in: Primary Coenzyme Q(10) Deficiency Overview. (PMID 28125198)