A40T (p.Ala40Thr) variant of CEBPA (P49715)
A40T (p.Ala40Thr) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- rs2145264401
- ClinGen CA405275641
- ClinVar RCV002917947
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.00
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.39
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)