E2D (p.Glu2Asp) variant of CEBPA (P49715)
E2D (p.Glu2Asp) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- rs2145265146
- ClinGen CA405275882
- ClinVar RCV001369493
- Ensembl rs2145265146
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- AlphaMissense 0.38
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.05
- SIFT 0.07
- MutPred 0.13
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)