A338V (p.Ala338Val) variant of COQ8A (Q8NI60)
A338V (p.Ala338Val) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive ataxia due to ubiquinone deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A338V (p.Ala338Val) variant details
- p.Ala338Val
- rs767406263
- ClinGen CA1425268
- ClinVar RCV000995685
- ExAC rs767406263
- Likely pathogenic
- Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.62
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive ataxia due to ubiquinone deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Primary Coenzyme Q(10) Deficiency Overview. (PMID 28125198)