P14R (p.Pro14Arg) variant of CEBPA (P49715)
P14R (p.Pro14Arg) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P14R (p.Pro14Arg) variant details
- p.Pro14Arg
- rs1007915253
- ClinGen CA405275805
- ClinVar RCV000550884
- ClinVar RCV001821502
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.05
- CADD 22.70
- PolyPhen-2 0.32
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 3.7e-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)