Q344H (p.Gln344His) variant of STAT3 (P40763)
Q344H (p.Gln344His) 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 0.73 / 1. The record also includes published literature and structural context.
Q344H (p.Gln344His) variant details
- p.Gln344His
- rs869312887
- ClinGen CA357936
- ClinVar RCV000210413
- gnomAD rs869312887
- Pathogenic
- STAT3-related early-onset multisystem autoimmune disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 0.98
- MetaLR 0.77
- MetaSVM 0.67
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.49
- 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)