M15L (p.Met15Leu) variant of CEBPA (P49715)
M15L (p.Met15Leu) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
M15L (p.Met15Leu) variant details
- p.Met15Leu
- rs1967203329
- ClinGen CA405275803
- ClinVar RCV001043287
- ClinVar RCV002255609
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.21
- MetaLR 0.07
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.13
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-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)