G54C (p.Gly54Cys) variant of CEBPA (P49715)
G54C (p.Gly54Cys) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G54C (p.Gly54Cys) variant details
- p.Gly54Cys
- rs777090929
- ClinGen CA9363717
- ClinVar RCV004431193
- ClinVar RCV005104595
- Uncertain significance
- Acute myeloid leukemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.12
- AlphaMissense 0.28
- MetaLR 0.17
- MetaSVM -0.87
- CADD 26.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Acute myeloid leukemia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.5e-05)
- 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)