L27P (p.Leu27Pro) variant of COQ8A (Q8NI60)
L27P (p.Leu27Pro) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 1-226961465-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.53
- CADD 24.30
- PolyPhen-2 0.83
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available