Q41H (p.Gln41His) variant of CEBPA (P49715)
Q41H (p.Gln41His) 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; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q41H (p.Gln41His) variant details
- p.Gln41His
- rs2145264351
- ClinGen CA405275629
- ClinVar RCV003089820
- ClinVar RCV005310902
- Conflicting interpretations
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.08
- CADD 23.50
- PolyPhen-2 0.50
- SIFT 0.55
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- 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)