E25V (p.Glu25Val) variant of CEBPB (P17676)
E25V (p.Glu25Val) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E25V (p.Glu25Val) variant details
- p.Glu25Val
- gnomAD 20-50191107-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.46
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available