S21N (p.Ser21Asn) variant of CEBPA (P49715)
S21N (p.Ser21Asn) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S21N (p.Ser21Asn) variant details
- p.Ser21Asn
- rs890855027
- ClinGen CA405275755
- ClinVar RCV003634216
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.10
- CADD 20.50
- PolyPhen-2 0.22
- SIFT 0.45
- 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-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)