A69S (p.Ala69Ser) variant of COQ8A (Q8NI60)
A69S (p.Ala69Ser) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A69S (p.Ala69Ser) variant details
- p.Ala69Ser
- gnomAD rs1403611525
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.12
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available