Q20H (p.Gln20His) variant of CEBPA (P49715)
Q20H (p.Gln20His) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q20H (p.Gln20His) variant details
- p.Gln20His
- rs1060502123
- ClinGen CA16616251
- ClinVar RCV000459476
- ClinVar RCV003441874
- Conflicting interpretations
- Inborn genetic diseases; not provided; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.05
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Acute myeloid leukemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.5e-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)