T716M (p.Thr716Met) variant of STAT3 (P40763)
T716M (p.Thr716Met) 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 0.61 / 1. The record also includes published literature and structural context.
T716M (p.Thr716Met) variant details
- p.Thr716Met
- rs869312892
- ClinGen CA357939
- cosmic curated COSV10728
- ClinVar RCV000210415
- Pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- AlphaMissense 0.15
- MetaLR 0.88
- MetaSVM 0.80
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.11
- ClinVar: Pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Pathogenic (in ADMIO1)
- UniProt: Pathogenic (in ADMIO1)
- Structural context available
- Cited in: Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. (PMID 25038750)
- Cited in: Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. (PMID 25359994)