S43H (p.Ser43His) variant of CEBPE (Q15744)
S43H (p.Ser43His) in CEBPE (Q15744) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S43H (p.Ser43His) variant details
- p.Ser43His
- rs1311095579
- gnomAD 14-23118958-TAGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.707
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available