E57D (p.Glu57Asp) variant of CEBPA (P49715)
E57D (p.Glu57Asp) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E57D (p.Glu57Asp) variant details
- p.Glu57Asp
- rs1967195766
- ClinGen CA405275531
- ClinVar RCV001224583
- ClinVar RCV004963246
- Conflicting interpretations
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -0.97
- CADD 13.10
- PolyPhen-2 0.03
- SIFT 0.51
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)