K298I (p.Lys298Ile) variant of STAT1 (P42224)
K298I (p.Lys298Ile) in STAT1 (P42224) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. The record also includes structural context.
K298I (p.Lys298Ile) variant details
- p.Lys298Ile
- Ensembl rs2125062043
- Pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- ClinVar: Pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- UniProt: Pathogenic (in IMD31C)
- Structural context available