C56W (p.Cys56Trp) variant of CEBPA (P49715)
C56W (p.Cys56Trp) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and structural context.
C56W (p.Cys56Trp) variant details
- p.Cys56Trp
- Ensembl rs1967195832
- Uncertain significance
- Inborn genetic diseases
- Missense
- MetaLR 0.10
- MetaSVM -1.04
- SIFT 0.43
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available