T622I (p.Thr622Ile) variant of STAT3 (P40763)
T622I (p.Thr622Ile) 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; STAT3 gain of func. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
T622I (p.Thr622Ile) variant details
- p.Thr622Ile
- rs2144691170
- ClinGen CA399582763
- ClinVar RCV003064439
- Ensembl rs2144691170
- Pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- 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)