Y657C (p.Tyr657Cys) variant of STAT3 (P40763)
Y657C (p.Tyr657Cys) 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 0.83 / 1. The record also includes published literature and structural context.
Y657C (p.Tyr657Cys) variant details
- p.Tyr657Cys
- rs193922721
- ClinGen CA260546
- cosmic curated COSV52885
- ClinVar RCV000030470
- Pathogenic/Likely pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Pathogenic/Likely pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Pathogenic (in HIES1)
- UniProt: Pathogenic (in HIES1)
- Structural context available
- Cited in: STAT3 mutations in the hyper-IgE syndrome. (PMID 17881745)
- Cited in: Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort. (PMID 26293184)