E70* (p.Glu70Ter) variant of COQ8A (Q8NI60)
E70* (p.Glu70Ter) in COQ8A (Q8NI60) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E70* (p.Glu70Ter) variant details
- p.Glu70Ter
- gnomAD 1-226965030-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available