Q46E (p.Gln46Glu) variant of IRF8 (Interferon regulatory factor 8)
Q46E (p.Gln46Glu) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Q46E (p.Gln46Glu) variant details
- p.Gln46Glu
- gnomAD 16-85903151-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.87
- CADD 24.90
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available