P23Q (p.Pro23Gln) variant of CEBPA (P49715)
P23Q (p.Pro23Gln) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P23Q (p.Pro23Gln) variant details
- p.Pro23Gln
- rs1308550194
- ClinGen CA405275744
- ClinVar RCV000688633
- ClinVar RCV002282327
- Uncertain significance
- not provided; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.02
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (not provided; Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2e-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)