V5M (p.Val5Met) variant of CEBPB (P17676)
V5M (p.Val5Met) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- gnomAD 20-50191046-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.04
- CADD 23.30
- PolyPhen-2 0.17
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available