A304T (p.Ala304Thr) variant of COQ8A (Q8NI60)
A304T (p.Ala304Thr) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A304T (p.Ala304Thr) variant details
- p.Ala304Thr
- rs778798354
- ClinGen CA1425211
- ClinVar RCV002651425
- UniProt VAR 072624
- Likely pathogenic
- not provided; Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.76
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in COQ10D4)
- UniProt: Pathogenic (in COQ10D4)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. (PMID 22036850)
- Cited in: CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. (PMID 18319072)