H18Y (p.His18Tyr) variant of CEBPA (P49715)
H18Y (p.His18Tyr) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H18Y (p.His18Tyr) variant details
- p.His18Tyr
- rs1600024559
- ClinGen CA405275776
- ClinVar RCV000822838
- ClinVar RCV002256551
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.04
- CADD 20.30
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Inborn ge)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.1e-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)