E24Q (p.Glu24Gln) variant of COQ8A (Q8NI60)
E24Q (p.Glu24Gln) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E24Q (p.Glu24Gln) variant details
- p.Glu24Gln
- 1000Genomes rs563890550
- ExAC rs563890550
- gnomAD rs563890550
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.41
- CADD 25.60
- PolyPhen-2 0.51
- SIFT 0.01
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available