G54S (p.Gly54Ser) variant of CEBPA (P49715)
G54S (p.Gly54Ser) 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 population frequency data, published literature, and structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- rs777090929
- ClinGen CA405275556
- ClinVar RCV001341219
- ClinVar RCV004968069
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.08
- AlphaMissense 0.26
- MetaLR 0.17
- MetaSVM -0.87
- CADD 22.70
- PolyPhen-2 1.00
- 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 1.9e-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)