I9V (p.Ile9Val) variant of COQ8A (Q8NI60)
I9V (p.Ile9Val) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I9V (p.Ile9Val) variant details
- p.Ile9Val
- rs529609184
- ClinGen CA1424908
- ClinVar RCV002178126
- 1000Genomes rs529609184
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.15
- CADD 14.90
- PolyPhen-2 0.04
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available