N425K (p.Asn425Lys) variant of STAT3 (P40763)
N425K (p.Asn425Lys) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of STAT3-related early-onset multisystem autoimmune disease. The record also includes structural context.
N425K (p.Asn425Lys) variant details
- p.Asn425Lys
- Ensembl rs2144766510
- Pathogenic
- STAT3-related early-onset multisystem autoimmune disease
- Missense
- ClinVar: Pathogenic (STAT3-related early-onset multisystem autoimmune disease)
- EBI: uncertain significance (in HIES1)
- UniProt: Uncertain significance (in HIES1)
- Structural context available