T8A (p.Thr8Ala) variant of COQ8A (Q8NI60)
T8A (p.Thr8Ala) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- TOPMed rs1466683362
- gnomAD rs1466683362
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.15
- CADD 2.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available