G60G (p.Gly60Gly) variant of COQ8A (Q8NI60)
G60G (p.Gly60Gly) in COQ8A (Q8NI60) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G60G (p.Gly60Gly) variant details
- p.Gly60Gly
- rs1658471458
- gnomAD 1-226965002-T-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 14.90
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available