D56H (p.Asp56His) variant of CEBPE (Q15744)
D56H (p.Asp56His) in CEBPE (Q15744) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
D56H (p.Asp56His) variant details
- p.Asp56His
- ESP rs371734898
- ExAC rs371734898
- TOPMed rs371734898
- gnomAD rs371734898
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- ESM-1b 1.00
- AlphaMissense 0.89
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available