P11L (p.Pro11Leu) variant of CEBPA (P49715)
P11L (p.Pro11Leu) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- rs1967204111
- ClinGen CA405275819
- ClinVar RCV001043498
- ClinVar RCV003346272
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.17
- AlphaMissense 0.27
- MetaLR 0.07
- MetaSVM -1.02
- CADD 24.90
- PolyPhen-2 0.80
- ClinVar: Uncertain significance (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.9e-05)
- 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)