Y59C (p.Tyr59Cys) variant of GATA2 (P23769)
Y59C (p.Tyr59Cys) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Monocytopenia with susceptibility to infe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y59C (p.Tyr59Cys) variant details
- p.Tyr59Cys
- rs140047487
- ClinGen CA2600092
- ClinVar RCV000525982
- ClinVar RCV001331504
- Uncertain significance
- Inborn genetic diseases; not provided; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0001)
- 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)