N466T (p.Asn466Thr) variant of STAT3 (P40763)
N466T (p.Asn466Thr) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.50 / 1. The record also includes published literature and structural context.
N466T (p.Asn466Thr) variant details
- p.Asn466Thr
- rs1057521091
- ClinGen CA16607583
- ClinVar RCV000417632
- ClinVar RCV002521588
- Pathogenic/Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.66
- MetaLR 0.64
- MetaSVM 0.09
- PolyPhen-2 0.00
- SIFT 0.01
- EVE 0.26
- ClinVar: Pathogenic/Likely pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)