R35W (p.Arg35Trp) variant of CEBPA (P49715)
R35W (p.Arg35Trp) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R35W (p.Arg35Trp) variant details
- p.Arg35Trp
- rs1238054852
- ClinGen CA405275667
- ClinVar RCV001227110
- gnomAD rs1238054852
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.13
- AlphaMissense 0.21
- MetaLR 0.14
- MetaSVM -0.95
- CADD 25.60
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Inborn genetic diseases; 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)