E50K (p.Glu50Lys) variant of CEBPE (Q15744)
E50K (p.Glu50Lys) 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 0.20 / 1. The record also includes structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- TOPMed rs993358781
- gnomAD rs993358781
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- ESM-1b 0.00
- AlphaMissense 0.75
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available