G38S (p.Gly38Ser) variant of CEBPA (P49715)
G38S (p.Gly38Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G38S (p.Gly38Ser) variant details
- p.Gly38Ser
- rs2145264443
- ClinGen CA405275652
- ClinVar RCV002942920
- Ensembl rs2145264443
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.03
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.5e-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)