E59Q (p.Glu59Gln) variant of CEBPA (P49715)
E59Q (p.Glu59Gln) in CEBPA (P49715) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E59Q (p.Glu59Gln) variant details
- p.Glu59Gln
- gnomAD rs1210600080
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available