P11T (p.Pro11Thr) variant of CEBPA (P49715)
P11T (p.Pro11Thr) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Acute myeloid leukemia. 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.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- rs1555742325
- ClinGen CA405275822
- ClinVar RCV001208304
- ClinVar RCV002249798
- Uncertain significance
- not specified; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.05
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-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)