T663I (p.Thr663Ile) variant of STAT3 (P40763)
T663I (p.Thr663Ile) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of STAT3-related early-onset multisystem autoimmune disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
T663I (p.Thr663Ile) variant details
- p.Thr663Ile
- rs869312889
- ClinGen CA357959
- ClinVar RCV000210428
- ClinVar RCV000788237
- Pathogenic
- STAT3-related early-onset multisystem autoimmune disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 0.50
- MetaLR 0.74
- MetaSVM 0.48
- PolyPhen-2 0.98
- SIFT 0.02
- MutPred 0.57
- ClinVar: Pathogenic (STAT3-related early-onset multisystem autoimmune disease)
- EBI: Pathogenic (in ADMIO1)
- UniProt: Pathogenic (in ADMIO1)
- Structural context available
- Cited in: Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. (PMID 25359994)
- Cited in: Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. (PMID 36228738)