L52P (p.Leu52Pro) variant of CEBPA (P49715)
L52P (p.Leu52Pro) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 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.
L52P (p.Leu52Pro) variant details
- p.Leu52Pro
- rs936973108
- ClinGen CA307844425
- ClinVar RCV000631437
- ClinVar RCV003918006
- Uncertain significance
- not provided; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -0.99
- CADD 24.90
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-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)