P13T (p.Pro13Thr) variant of CEBPA (P49715)
P13T (p.Pro13Thr) 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; Inborn genetic diseases; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P13T (p.Pro13Thr) variant details
- p.Pro13Thr
- rs961496947
- ClinGen CA307844461
- ClinVar RCV001919876
- ClinVar RCV004774514
- Uncertain significance
- not provided; Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.23
- MetaLR 0.23
- MetaSVM -0.61
- CADD 25.80
- PolyPhen-2 0.89
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-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)