A37T (p.Ala37Thr) variant of CEBPA (P49715)
A37T (p.Ala37Thr) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- rs1404014711
- ClinGen CA405275656
- ClinVar RCV000815128
- TOPMed rs1404014711
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.01
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.9e-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)