S27T (p.Ser27Thr) variant of CEBPA (P49715)
S27T (p.Ser27Thr) 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 0.32 / 1. The record also includes published literature and structural context.
S27T (p.Ser27Thr) variant details
- p.Ser27Thr
- rs2145264644
- ClinGen CA405275718
- ClinVar RCV001919386
- ClinVar RCV005308596
- Uncertain significance
- Acute myeloid leukemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 0.10
- MetaLR 0.08
- MetaSVM -0.96
- PolyPhen-2 0.08
- SIFT 0.01
- MutPred 0.10
- ClinVar: Uncertain significance (Acute myeloid leukemia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)