A47A (p.Ala47Ala) variant of COQ8A (Q8NI60)
A47A (p.Ala47Ala) in COQ8A (Q8NI60) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A47A (p.Ala47Ala) variant details
- p.Ala47Ala
- rs1658254343
- gnomAD 1-226961526-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.91
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available