C11F (p.Cys11Phe) variant of CEBPB (P17676)
C11F (p.Cys11Phe) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
C11F (p.Cys11Phe) variant details
- p.Cys11Phe
- gnomAD 20-50191065-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.21
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available