P14Q (p.Pro14Gln) variant of CEBPA (P49715)
P14Q (p.Pro14Gln) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Acute myeloid leukemia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P14Q (p.Pro14Gln) variant details
- p.Pro14Gln
- rs1007915253
- ClinGen CA307844456
- ClinVar RCV000823058
- ClinVar RCV002508269
- Conflicting interpretations
- not provided; Acute myeloid leukemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.06
- CADD 22.60
- PolyPhen-2 0.32
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not provided; Acute myeloid leukemia; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-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)