C712R (p.Cys712Arg) variant of STAT3 (P40763)
C712R (p.Cys712Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
C712R (p.Cys712Arg) variant details
- p.Cys712Arg
- rs193922722
- ClinGen CA260548
- ClinVar RCV000030471
- Ensembl rs193922722
- Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 0.95
- MetaLR 0.89
- MetaSVM 0.85
- PolyPhen-2 0.98
- SIFT 0.26
- EVE 0.08
- ClinVar: Likely pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)