P27S (p.Pro27Ser) variant of GATA2 (P23769)
P27S (p.Pro27Ser) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Monocytopenia with susceptibility to infections. The record also includes structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- rs2472934854
- ClinGen CA354409004
- ClinVar RCV003990443
- Likely benign
- Monocytopenia with susceptibility to infections
- Missense
- ClinVar: Likely benign (Monocytopenia with susceptibility to infections)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available