A21P (p.Ala21Pro) variant of COQ8A (Q8NI60)
A21P (p.Ala21Pro) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- ExAC rs750619418
- gnomAD rs750619418
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.48
- CADD 26.20
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available