H64R (p.His64Arg) variant of COQ8A (Q8NI60)
H64R (p.His64Arg) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
H64R (p.His64Arg) variant details
- p.His64Arg
- gnomAD 1-226965013-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0825
- REVEL 0.10
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available