R301W (p.Arg301Trp) variant of COQ8A (Q8NI60)
R301W (p.Arg301Trp) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Autosomal recessive ataxia due to ubiquin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R301W (p.Arg301Trp) variant details
- p.Arg301Trp
- rs140246430
- ClinGen CA1425209
- ClinVar RCV000500136
- ClinVar RCV002524143
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Autosomal recessive ataxia due to ubiquin
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.60
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Autosomal recessive ataxi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Primary Coenzyme Q(10) Deficiency Overview. (PMID 28125198)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)