L27V (p.Leu27Val) variant of COQ8A (Q8NI60)
L27V (p.Leu27Val) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- gnomAD 1-226961464-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.27
- CADD 15.90
- PolyPhen-2 0.02
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available