P43S (p.Pro43Ser) variant of CEBPA (P49715)
P43S (p.Pro43Ser) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- rs2513333069
- ClinGen CA405275619
- ClinVar RCV003043497
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.03
- AlphaMissense 0.47
- MetaLR 0.15
- MetaSVM -0.95
- CADD 22.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)