L14R (p.Leu14Arg) variant of CEBPB (P17676)
L14R (p.Leu14Arg) in CEBPB (P17676) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- gnomAD 20-50191073-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available