L4M (p.Leu4Met) variant of CEBPB (P17676)
L4M (p.Leu4Met) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- gnomAD 20-50191043-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.08
- CADD 25.00
- PolyPhen-2 0.80
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available