G14D (p.Gly14Asp) variant of COQ8A (Q8NI60)
G14D (p.Gly14Asp) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- gnomAD 1-226961426-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.82
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available