A3G (p.Ala3Gly) variant of COQ8A (Q8NI60)
A3G (p.Ala3Gly) 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.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- gnomAD 1-226961393-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.18
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available