H58Q (p.His58Gln) variant of CEBPA (P49715)
H58Q (p.His58Gln) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
H58Q (p.His58Gln) variant details
- p.His58Gln
- rs878854699
- ClinGen CA405275522
- ClinVar RCV003002618
- ClinVar RCV005308885
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.15
- MetaLR 0.05
- MetaSVM -1.04
- CADD 24.60
- PolyPhen-2 0.09
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)