H18Q (p.His18Gln) variant of CEBPA (P49715)
H18Q (p.His18Gln) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H18Q (p.His18Gln) variant details
- p.His18Gln
- rs1600024552
- ClinGen CA405275771
- ClinVar RCV000800564
- Ensembl rs1600024552
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.03
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 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)