W360R (p.Trp360Arg) variant of GATA2 (P23769)
W360R (p.Trp360Arg) 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 0.97 / 1. The record also includes structural context.
W360R (p.Trp360Arg) variant details
- p.Trp360Arg
- rs2107668680
- ClinGen CA354413587
- ClinVar RCV003807225
- ClinGen CA354413588
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available