A22P (p.Ala22Pro) variant of COQ8A (Q8NI60)
A22P (p.Ala22Pro) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- gnomAD rs1316238147
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.34
- CADD 22.60
- PolyPhen-2 0.36
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available