C56S (p.Cys56Ser) variant of CEBPA (P49715)
C56S (p.Cys56Ser) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C56S (p.Cys56Ser) variant details
- p.Cys56Ser
- rs2513332860
- ClinGen CA405275545
- ClinVar RCV003460386
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.21
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -1.04
- CADD 22.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)