P368R (p.Pro368Arg) variant of GATA2 (P23769)
P368R (p.Pro368Arg) 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. The record also includes structural context.
P368R (p.Pro368Arg) variant details
- p.Pro368Arg
- rs2472920836
- ClinGen CA354413534
- ClinVar RCV003990037
- Likely pathogenic
- Monocytopenia with susceptibility to infections
- Missense
- ClinVar: Likely pathogenic (Monocytopenia with susceptibility to infections)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available