T708S (p.Thr708Ser) variant of STAT3 (P40763)
T708S (p.Thr708Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
T708S (p.Thr708Ser) variant details
- p.Thr708Ser
- rs2144622906
- ClinGen CA399580218
- ClinVar RCV001823640
- Ensembl rs2144622906
- Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.32
- ClinVar: Likely pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)