I32V (p.Ile32Val) variant of COQ8A (Q8NI60)
I32V (p.Ile32Val) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- ExAC rs777619147
- TOPMed rs777619147
- gnomAD rs777619147
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.07
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available