F54L (p.Phe54Leu) variant of COQ8A (Q8NI60)
F54L (p.Phe54Leu) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- gnomAD 1-226961547-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.07
- CADD 9.65
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available