A42A (p.Ala42Ala) variant of COQ8A (Q8NI60)
A42A (p.Ala42Ala) in COQ8A (Q8NI60) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A42A (p.Ala42Ala) variant details
- p.Ala42Ala
- gnomAD 1-226961511-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 10.60
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Literature evidence available