P14A (p.Pro14Ala) variant of CEBPA (P49715)
P14A (p.Pro14Ala) 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; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P14A (p.Pro14Ala) variant details
- p.Pro14Ala
- rs1379627026
- ClinGen CA405275807
- ClinVar RCV000535994
- ClinVar RCV002256342
- Uncertain significance
- Inborn genetic diseases; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.03
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)