K626N (p.Lys626Asn) variant of STAT3 (P40763)
K626N (p.Lys626Asn) 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.
K626N (p.Lys626Asn) variant details
- p.Lys626Asn
- cosmic curated COSV52892
- ExAC rs774445141
- TOPMed rs774445141
- gnomAD rs774445141
- Pathogenic
- STAT3-related early-onset multisystem autoimmune disease
- Missense
- ClinVar: Pathogenic (STAT3-related early-onset multisystem autoimmune disease)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available