H332Y (p.His332Tyr) variant of STAT3 (P40763)
H332Y (p.His332Tyr) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.74 / 1. The record also includes published literature and structural context.
H332Y (p.His332Tyr) variant details
- p.His332Tyr
- rs2144827923
- ClinGen CA399590687
- NCI-TCGA Cosmic COSV5288
- cosmic curated COSV52885
- Pathogenic/Likely pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- AlphaMissense 0.53
- MetaLR 0.77
- MetaSVM 0.60
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.87
- ClinVar: Pathogenic/Likely 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)