L14M (p.Leu14Met) variant of CEBPB (P17676)
L14M (p.Leu14Met) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- gnomAD 20-50191073-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.05
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available