A48S (p.Ala48Ser) variant of CEBPA (P49715)
A48S (p.Ala48Ser) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A48S (p.Ala48Ser) variant details
- p.Ala48Ser
- rs892805896
- ClinGen CA405275590
- ClinVar RCV003518387
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -1.03
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.86
- 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)