E66A (p.Glu66Ala) variant of COQ8A (Q8NI60)
E66A (p.Glu66Ala) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E66A (p.Glu66Ala) variant details
- p.Glu66Ala
- gnomAD 1-226965019-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.12
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available