Q28H (p.Gln28His) variant of COQ8A (Q8NI60)
Q28H (p.Gln28His) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q28H (p.Gln28His) variant details
- p.Gln28His
- gnomAD 1-226961469-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.28
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available