R382Q (p.Arg382Gln) variant of STAT3 (P40763)
R382Q (p.Arg382Gln) 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 0.76 / 1. The record also includes published literature and structural context.
R382Q (p.Arg382Gln) variant details
- p.Arg382Gln
- rs113994136
- ClinGen CA341506
- cosmic curated COSV10959
- ClinVar RCV000019967
- Pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 0.99
- MetaLR 0.75
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.70
- 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)