P51A (p.Pro51Ala) variant of CEBPA (P49715)
P51A (p.Pro51Ala) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P51A (p.Pro51Ala) variant details
- p.Pro51Ala
- rs1278513408
- ClinGen CA405275572
- ClinVar RCV001048574
- ClinVar RCV005532825
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.08
- AlphaMissense 0.92
- MetaLR 0.15
- MetaSVM -0.92
- CADD 18.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 6.9e-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)