H64Q (p.His64Gln) variant of COQ8A (Q8NI60)
H64Q (p.His64Gln) in COQ8A (Q8NI60) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
H64Q (p.His64Gln) variant details
- p.His64Gln
- TOPMed rs1572045723
- gnomAD rs1572045723
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.16
- CADD 0.25
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available