P49R (p.Pro49Arg) variant of CEBPA (P49715)
P49R (p.Pro49Arg) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P49R (p.Pro49Arg) variant details
- p.Pro49Arg
- rs2513332961
- ClinGen CA645612873
- ClinVar RCV002282596
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.03
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- 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)