T60S (p.Thr60Ser) variant of CEBPA (P49715)
T60S (p.Thr60Ser) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
T60S (p.Thr60Ser) variant details
- p.Thr60Ser
- rs1060502120
- ClinGen CA16616041
- ClinVar RCV000457308
- ClinVar RCV005801797
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.43
- MetaLR 0.06
- MetaSVM -1.06
- PolyPhen-2 0.23
- SIFT 0.70
- EVE 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases; Acute myeloid leukemia)
- 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)