G32S (p.Gly32Ser) variant of CEBPA (P49715)
G32S (p.Gly32Ser) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G32S (p.Gly32Ser) variant details
- p.Gly32Ser
- rs1348778034
- ClinGen CA405275687
- ClinVar RCV000551488
- ClinVar RCV005801820
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.06
- AlphaMissense 0.33
- MetaLR 0.20
- MetaSVM -0.81
- CADD 22.60
- 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 South Asian population (allele frequency 3.6e-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)