R384G (p.Arg384Gly) variant of GATA2 (P23769)
R384G (p.Arg384Gly) in GATA2 (P23769) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy. The record also includes structural context.
R384G (p.Arg384Gly) variant details
- p.Arg384Gly
- cosmic curated COSV62003
- Likely pathogenic
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- ClinVar: Likely pathogenic (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- UniProt: Likely pathogenic
- Structural context available