R382L (p.Arg382Leu) variant of STAT3 (P40763)
R382L (p.Arg382Leu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
R382L (p.Arg382Leu) variant details
- p.Arg382Leu
- rs113994136
- ClinGen CA290736664
- ClinVar RCV000019969
- UniProt VAR 037365
- Pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- 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 (Hyper-IgE recurrent infection syndrome 1, autosomal dominant)
- EBI: Pathogenic (in HIES1)
- UniProt: Pathogenic (in HIES1)
- Structural context available
- Cited in: STAT3 mutations in the hyper-IgE syndrome. (PMID 17881745)
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)