L52V (p.Leu52Val) variant of GATA2 (P23769)
L52V (p.Leu52Val) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acute myeloid leukemia. The record also includes published literature and structural context.
L52V (p.Leu52Val) variant details
- p.Leu52Val
- rs2472934484
- ClinGen CA354408597
- ClinVar RCV003461657
- Uncertain significance
- Acute myeloid leukemia
- Missense
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)