C11R (p.Cys11Arg) variant of CEBPB (P17676)
C11R (p.Cys11Arg) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
C11R (p.Cys11Arg) variant details
- p.Cys11Arg
- gnomAD 20-50191064-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.27
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available