R9H (p.Arg9His) variant of GATA2 (P23769)
R9H (p.Arg9His) 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 0.83 / 1. The record also includes population frequency data and structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- rs1392814696
- ClinGen CA354409256
- ClinVar RCV003815355
- TOPMed rs1392814696
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.86
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.20
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available