H26R (p.His26Arg) variant of COQ8A (Q8NI60)
H26R (p.His26Arg) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H26R (p.His26Arg) variant details
- p.His26Arg
- gnomAD 1-226961462-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available