R321G (p.Arg321Gly) variant of STAT1 (P42224)
R321G (p.Arg321Gly) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien. The record also includes structural context.
R321G (p.Arg321Gly) variant details
- p.Arg321Gly
- rs2470484324
- ClinGen CA349920823
- ClinVar RCV003780991
- Pathogenic
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- ClinVar: Pathogenic (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available