G14A (p.Gly14Ala) variant of COQ8A (Q8NI60)
G14A (p.Gly14Ala) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G14A (p.Gly14Ala) variant details
- p.Gly14Ala
- Ensembl rs567681518
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.67
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available