G52D (p.Gly52Asp) variant of COQ8A (Q8NI60)
G52D (p.Gly52Asp) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G52D (p.Gly52Asp) variant details
- p.Gly52Asp
- gnomAD rs1349356298
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.19
- CADD 7.00
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available