A338T (p.Ala338Thr) variant of COQ8A (Q8NI60)
A338T (p.Ala338Thr) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive ataxia due to ubiquinone deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A338T (p.Ala338Thr) variant details
- p.Ala338Thr
- rs370159265
- ClinGen CA1425267
- ClinVar RCV003482682
- ESP rs370159265
- Uncertain significance
- Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.67
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available