A25P (p.Ala25Pro) variant of CEBPA (P49715)
A25P (p.Ala25Pro) 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 0.32 / 1. The record also includes published literature and structural context.
A25P (p.Ala25Pro) variant details
- p.Ala25Pro
- rs1600024440
- ClinGen CA405275733
- ClinVar RCV000822192
- Ensembl rs1600024440
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.08
- PolyPhen-2 0.82
- SIFT 0.19
- MutPred 0.15
- 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)