A39V (p.Ala39Val) variant of COQ8A (Q8NI60)
A39V (p.Ala39Val) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- rs773489358
- ClinGen CA1424929
- NCI-TCGA Cosmic COSV6465
- ClinVar RCV001095969
- Uncertain significance
- not provided; Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.08
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (not provided; Autosomal recessive ataxia due to ubiquinone defic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Primary Coenzyme Q(10) Deficiency Overview. (PMID 28125198)