G31D (p.Gly31Asp) variant of COQ8A (Q8NI60)
G31D (p.Gly31Asp) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- gnomAD 1-226961477-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.32
- CADD 22.00
- PolyPhen-2 0.10
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available