S28N (p.Ser28Asn) variant of CEBPA (P49715)
S28N (p.Ser28Asn) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Acute myeloid leukemia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- rs2145264621
- ClinGen CA405275712
- ClinVar RCV001954859
- Ensembl rs2145264621
- Conflicting interpretations
- Acute myeloid leukemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.06
- CADD 19.60
- PolyPhen-2 0.24
- SIFT 0.37
- ClinVar: Conflicting classifications of pathogenicity (Acute myeloid leukemia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- 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)