A47V (p.Ala47Val) variant of CEBPA (P49715)
A47V (p.Ala47Val) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 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.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- rs1444506221
- ClinGen CA405275592
- ClinVar RCV001319446
- gnomAD rs1444506221
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -0.98
- CADD 23.80
- PolyPhen-2 0.05
- SIFT 0.15
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.5e-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)