I104T (p.Ile104Thr) variant of STAT3 (P40763)
I104T (p.Ile104Thr) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I104T (p.Ile104Thr) variant details
- p.Ile104Thr
- rs2082662438
- ClinGen CA399596575
- ClinVar RCV001128401
- Ensembl rs2082662438
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.62
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.18
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 1, autosomal dominant)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)