V5L (p.Val5Leu) variant of CEBPB (P17676)
V5L (p.Val5Leu) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- gnomAD 20-50191046-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.03
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available