R382W (p.Arg382Trp) variant of STAT3 (P40763)
R382W (p.Arg382Trp) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R382W (p.Arg382Trp) variant details
- p.Arg382Trp
- rs113994135
- ClinGen CA341504
- cosmic curated COSV52890
- ClinVar RCV000019966
- Pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Pathogenic (in HIES1)
- UniProt: Pathogenic (in HIES1)
- Structural context available
- Cited in: Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. (PMID 17676033)
- Cited in: STAT3 mutations in the hyper-IgE syndrome. (PMID 17881745)