Y705H (p.Tyr705His) variant of STAT3 (P40763)
Y705H (p.Tyr705His) 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 0.88 / 1. The record also includes published literature and structural context.
Y705H (p.Tyr705His) variant details
- p.Tyr705His
- rs2081288410
- ClinGen CA399580242
- ClinVar RCV001217584
- Ensembl rs2081288410
- Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.70
- 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)