M15K (p.Met15Lys) variant of CEBPA (P49715)
M15K (p.Met15Lys) 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.
M15K (p.Met15Lys) variant details
- p.Met15Lys
- rs1600024585
- ClinGen CA405275799
- ClinVar RCV003635291
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.18
- MetaLR 0.12
- MetaSVM -0.92
- CADD 26.60
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.7e-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)