A22S (p.Ala22Ser) variant of COQ8A (Q8NI60)
A22S (p.Ala22Ser) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- gnomAD 1-226961449-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.12
- CADD 20.90
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available