A39A (p.Ala39Ala) variant of COQ8A (Q8NI60)
A39A (p.Ala39Ala) in COQ8A (Q8NI60) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A39A (p.Ala39Ala) variant details
- p.Ala39Ala
- rs11549708
- gnomAD 1-226961502-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.92
- Most common in the HGDP:SARDINIAN population (allele frequency 0.46)
- Structural context available
- Literature evidence available