P8Q (p.Pro8Gln) variant of GATA2 (P23769)
P8Q (p.Pro8Gln) 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; Monocytopenia with susceptibility to infections; Deafne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P8Q (p.Pro8Gln) variant details
- p.Pro8Gln
- rs771557922
- ClinGen CA2600123
- cosmic curated COSV10590
- ClinVar RCV000531890
- Uncertain significance
- Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.82
- CADD 31.00
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Monocytopenia with susceptibility to in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- 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)