S3L (p.Ser3Leu) variant of CEBPA (P49715)
S3L (p.Ser3Leu) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- rs2145265139
- ClinGen CA405275875
- ClinVar RCV003860012
- 1000Genomes rs2145265139
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.01
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- 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)