P14L (p.Pro14Leu) variant of CEBPA (P49715)
P14L (p.Pro14Leu) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- rs1007915253
- ClinGen CA405275804
- ClinVar RCV003517771
- ClinVar RCV005806798
- Conflicting interpretations
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.03
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.1e-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)