L29V (p.Leu29Val) variant of GATA2 (P23769)
L29V (p.Leu29Val) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- rs2068709828
- ClinGen CA354408972
- ClinVar RCV002710174
- ClinVar RCV003464588
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- AlphaMissense 0.11
- MetaLR 0.92
- MetaSVM 0.93
- PolyPhen-2 0.94
- SIFT 0.01
- MutPred 0.22
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- 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)