V11A (p.Val11Ala) variant of COQ8A (Q8NI60)
V11A (p.Val11Ala) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- gnomAD 1-226961417-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.38
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available