R3C (p.Arg3Cys) variant of CEBPB (P17676)
R3C (p.Arg3Cys) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- TOPMed rs2081571718
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.21
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.16
- Population evidence available
- Structural context available