Q44* (p.Gln44Ter) variant of COQ8A (Q8NI60)
Q44* (p.Gln44Ter) 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.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- gnomAD 1-226961515-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 38.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available