P49T (p.Pro49Thr) variant of CEBPA (P49715)
P49T (p.Pro49Thr) 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; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P49T (p.Pro49Thr) variant details
- p.Pro49Thr
- rs2145264153
- ClinGen CA405275586
- ClinVar RCV001928243
- ClinVar RCV003355647
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.04
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)