G34R (p.Gly34Arg) variant of COQ8A (Q8NI60)
G34R (p.Gly34Arg) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- ESP rs142125927
- ExAC rs142125927
- TOPMed rs142125927
- gnomAD rs142125927
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.27
- CADD 24.90
- PolyPhen-2 0.47
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available