P34T (p.Pro34Thr) variant of CEBPA (P49715)
P34T (p.Pro34Thr) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P34T (p.Pro34Thr) variant details
- p.Pro34Thr
- rs996435066
- ClinGen CA307844436
- ClinVar RCV001338310
- ClinVar RCV002546843
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.01
- MetaLR 0.05
- MetaSVM -1.01
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)