M15I (p.Met15Ile) variant of CEBPA (P49715)
M15I (p.Met15Ile) 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.
M15I (p.Met15Ile) variant details
- p.Met15Ile
- rs1366281839
- ClinGen CA405275796
- ClinVar RCV001316011
- TOPMed rs1366281839
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.13
- MetaLR 0.09
- MetaSVM -0.99
- CADD 23.80
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- 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)