R362Q (p.Arg362Gln) variant of GATA2 (P23769)
R362Q (p.Arg362Gln) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R362Q (p.Arg362Gln) variant details
- p.Arg362Gln
- rs867160952
- ClinGen CA83376555
- NCI-TCGA Cosmic COSV6200
- cosmic curated COSV62003
- Conflicting interpretations
- Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Monocytopenia with susceptibility to in)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)