C11S (p.Cys11Ser) variant of CEBPB (P17676)
C11S (p.Cys11Ser) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C11S (p.Cys11Ser) variant details
- p.Cys11Ser
- gnomAD 20-50191065-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.24
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available