E551K (p.Glu551Lys) variant of COQ8A (Q8NI60)
E551K (p.Glu551Lys) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive ataxia due to ubiquinone deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E551K (p.Glu551Lys) variant details
- p.Glu551Lys
- rs119468004
- ClinGen CA116399
- cosmic curated COSV62008
- ClinVar RCV000003821
- Pathogenic
- Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.71
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive ataxia due to ubiquinone deficiency)
- EBI: Pathogenic (in COQ10D4)
- UniProt: Pathogenic (in COQ10D4)
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. (PMID 18319072)
- Cited in: Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. (PMID 22036850)