Q44H (p.Gln44His) variant of COQ8A (Q8NI60)
Q44H (p.Gln44His) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Q44H (p.Gln44His) variant details
- p.Gln44His
- gnomAD 1-226961517-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.34
- CADD 25.80
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available