G38C (p.Gly38Cys) variant of CEBPA (P49715)
G38C (p.Gly38Cys) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G38C (p.Gly38Cys) variant details
- p.Gly38Cys
- rs2145264443
- ClinGen CA405275650
- NCI-TCGA Cosmic COSV5719
- ClinVar RCV003052550
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.10
- CADD 27.00
- PolyPhen-2 0.54
- SIFT 0.03
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)