R13W (p.Arg13Trp) variant of STAT3 (P40763)
R13W (p.Arg13Trp) in STAT3 (P40763) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func. The record also includes structural context.
R13W (p.Arg13Trp) variant details
- p.Arg13Trp
- cosmic curated COSV52885
- Ensembl rs2145014281
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- UniProt: Uncertain significance
- Structural context available