E50D (p.Glu50Asp) variant of CEBPA (P49715)
E50D (p.Glu50Asp) in CEBPA (P49715) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E50D (p.Glu50Asp) variant details
- p.Glu50Asp
- Ensembl rs1967196743
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.03
- AlphaMissense 0.89
- MetaLR 0.17
- MetaSVM -0.88
- CADD 19.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available