P22S (p.Pro22Ser) variant of GATA2 (P23769)
P22S (p.Pro22Ser) 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; Monocytopenia with susceptibility to infections; Deafnes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- rs1172590651
- ClinGen CA354409087
- ClinVar RCV001038352
- ClinVar RCV003461440
- Uncertain significance
- Acute myeloid leukemia; Monocytopenia with susceptibility to infections; Deafnes
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.62
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (Acute myeloid leukemia; Monocytopenia with susceptibility to inf)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)