R398G (p.Arg398Gly) variant of GATA2 (P23769)
R398G (p.Arg398Gly) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.94 / 1. The record also includes structural context.
R398G (p.Arg398Gly) variant details
- p.Arg398Gly
- rs387906629
- ClinGen CA354413214
- ClinVar RCV003043338
- Likely pathogenic
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Likely pathogenic (in IMD21)
- UniProt: Likely pathogenic (in IMD21)
- Structural context available