F54V (p.Phe54Val) variant of COQ8A (Q8NI60)
F54V (p.Phe54Val) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
F54V (p.Phe54Val) variant details
- p.Phe54Val
- gnomAD 1-226961545-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.15
- CADD 8.48
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available