V23M (p.Val23Met) variant of COQ8A (Q8NI60)
V23M (p.Val23Met) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V23M (p.Val23Met) variant details
- p.Val23Met
- rs35582308
- ClinGen CA289296
- ClinVar RCV000123533
- ClinVar RCV000676176
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.23
- CADD 15.90
- PolyPhen-2 0.12
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- 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)