G33* (p.Gly33Ter) variant of COQ8A (Q8NI60)
G33* (p.Gly33Ter) in COQ8A (Q8NI60) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G33* (p.Gly33Ter) variant details
- p.Gly33Ter
- gnomAD 1-226961482-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available