T714I (p.Thr714Ile) variant of STAT3 (P40763)
T714I (p.Thr714Ile) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
T714I (p.Thr714Ile) variant details
- p.Thr714Ile
- rs2081287195
- ClinGen CA399580177
- ClinVar RCV001302950
- Ensembl rs2081287195
- Pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- AlphaMissense 0.95
- MetaLR 0.90
- MetaSVM 0.83
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.13
- ClinVar: Pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)