P42S (p.Pro42Ser) variant of CEBPA (P49715)
P42S (p.Pro42Ser) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- rs1382321984
- ClinGen CA405275625
- ClinVar RCV001365663
- ClinVar RCV005532981
- Conflicting interpretations
- not provided; Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.10
- CADD 24.00
- PolyPhen-2 0.49
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.7e-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)