L14P (p.Leu14Pro) variant of CEBPB (P17676)
L14P (p.Leu14Pro) in CEBPB (P17676) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD 20-50191068-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 27.10
- Population evidence available
- Structural context available
- Literature evidence available