R103W (p.Arg103Trp) variant of STAT3 (P40763)
R103W (p.Arg103Trp) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R103W (p.Arg103Trp) variant details
- p.Arg103Trp
- rs1408283351
- ClinGen CA399596589
- ClinVar RCV000686341
- TOPMed rs1408283351
- Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.57
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Likely pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Likely pathogenic (in ADMIO1)
- UniProt: Likely pathogenic (in ADMIO1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. (PMID 36228738)
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)