P695L (p.Pro695Leu) variant of STAT3 (P40763)
P695L (p.Pro695Leu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func. The record also includes structural context.
P695L (p.Pro695Leu) variant details
- p.Pro695Leu
- Ensembl rs2144678025
- Pathogenic/Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- UniProt: Likely pathogenic
- Structural context available