A703T (p.Ala703Thr) variant of STAT3 (P40763)
A703T (p.Ala703Thr) 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 0.49 / 1. The record also includes published literature and structural context.
A703T (p.Ala703Thr) variant details
- p.Ala703Thr
- rs869312894
- ClinGen CA357962
- ClinVar RCV000210433
- Ensembl rs869312894
- Pathogenic
- STAT3-related early-onset multisystem autoimmune disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- AlphaMissense 0.07
- MetaLR 0.66
- MetaSVM 0.25
- PolyPhen-2 0.32
- SIFT 0.88
- EVE 0.08
- 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: Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. (PMID 25038750)