M15V (p.Met15Val) variant of CEBPA (P49715)
M15V (p.Met15Val) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
M15V (p.Met15Val) variant details
- p.Met15Val
- rs1967203329
- ClinGen CA405275802
- ClinVar RCV001884839
- Ensembl rs1967203329
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.19
- MetaLR 0.08
- MetaSVM -1.07
- CADD 23.50
- PolyPhen-2 0.21
- SIFT 0.09
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- 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)