E25G (p.Glu25Gly) variant of CEBPB (P17676)
E25G (p.Glu25Gly) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E25G (p.Glu25Gly) variant details
- p.Glu25Gly
- gnomAD 20-50191107-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.43
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available