L14C (p.Leu14Cys) variant of CEBPB (P17676)
L14C (p.Leu14Cys) in CEBPB (P17676) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L14C (p.Leu14Cys) variant details
- p.Leu14Cys
- rs1568673103
- gnomAD 20-50191068-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available