A2P (p.Ala2Pro) variant of COQ8A (Q8NI60)
A2P (p.Ala2Pro) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- ExAC rs749147197
- gnomAD rs749147197
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.31
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available