T714K (p.Thr714Lys) variant of STAT3 (P40763)
T714K (p.Thr714Lys) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.71 / 1. The record also includes published literature and structural context.
T714K (p.Thr714Lys) variant details
- p.Thr714Lys
- rs2081287195
- ClinGen CA399580176
- ClinVar RCV002635401
- Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- 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: Likely pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)