G56R (p.Gly56Arg) variant of COQ8A (Q8NI60)
G56R (p.Gly56Arg) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G56R (p.Gly56Arg) variant details
- p.Gly56Arg
- gnomAD 1-226961551-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.30
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available