T620S (p.Thr620Ser) variant of STAT3 (P40763)
T620S (p.Thr620Ser) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi. The record also includes structural context.
T620S (p.Thr620Ser) variant details
- p.Thr620Ser
- Ensembl rs2144691401
- Pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- ClinVar: Pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available