T389A (p.Thr389Ala) variant of STAT3 (P40763)
T389A (p.Thr389Ala) 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 0.72 / 1. The record also includes published literature and structural context.
T389A (p.Thr389Ala) variant details
- p.Thr389Ala
- rs2081905517
- ClinGen CA399589036
- ClinVar RCV001220202
- ClinVar RCV001566818
- Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.83
- MetaLR 0.80
- MetaSVM 0.71
- PolyPhen-2 0.73
- SIFT 0.00
- EVE 0.36
- ClinVar: Likely pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Likely pathogenic (in ADMIO1)
- UniProt: Likely pathogenic (in ADMIO1)
- 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)