K13R (p.Lys13Arg) variant of STAT1 (P42224)
K13R (p.Lys13Arg) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility. The record also includes structural context.
K13R (p.Lys13Arg) variant details
- p.Lys13Arg
- rs2470570537
- ClinGen CA349928534
- ClinVar RCV003810287
- Uncertain significance
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- ClinVar: Uncertain significance (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available