A48T (p.Ala48Thr) variant of CEBPA (P49715)
A48T (p.Ala48Thr) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- rs892805896
- ClinGen CA307844429
- ClinVar RCV001214994
- ClinVar RCV005306318
- Uncertain significance
- Acute myeloid leukemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -0.93
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.59
- ClinVar: Uncertain significance (Acute myeloid leukemia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00015)
- 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)