E35* (p.Glu35Ter) variant of COQ8A (Q8NI60)
E35* (p.Glu35Ter) in COQ8A (Q8NI60) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E35* (p.Glu35Ter) variant details
- p.Glu35Ter
- ExAC rs749815821
- gnomAD rs749815821
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.871
- CADD 40.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available