P45A (p.Pro45Ala) variant of CEBPA (P49715)
P45A (p.Pro45Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P45A (p.Pro45Ala) variant details
- p.Pro45Ala
- rs2145264273
- ClinGen CA405275608
- ClinVar RCV002034038
- Ensembl rs2145264273
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.01
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.5e-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)