Q17E (p.Gln17Glu) variant of IRF8 (Interferon regulatory factor 8)
Q17E (p.Gln17Glu) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q17E (p.Gln17Glu) variant details
- p.Gln17Glu
- gnomAD 16-85903064-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.90
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available