H64H (p.His64His) variant of COQ8A (Q8NI60)
H64H (p.His64His) in COQ8A (Q8NI60) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H64H (p.His64His) variant details
- p.His64His
- rs1572045723
- gnomAD 1-226965014-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0852
- CADD 0.64
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available