T620A (p.Thr620Ala) variant of STAT3 (P40763)
T620A (p.Thr620Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
T620A (p.Thr620Ala) variant details
- p.Thr620Ala
- rs2144691401
- ClinGen CA399582797
- ClinVar RCV002469941
- Ensembl rs2144691401
- Pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- AlphaMissense 0.97
- MetaLR 0.62
- MetaSVM 0.24
- PolyPhen-2 0.48
- SIFT 0.00
- EVE 0.35
- ClinVar: Pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)