I711S (p.Ile711Ser) variant of STAT3 (P40763)
I711S (p.Ile711Ser) 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 0.85 / 1. The record also includes published literature and structural context.
I711S (p.Ile711Ser) variant details
- p.Ile711Ser
- rs1598381121
- ClinGen CA399580197
- ClinVar RCV000989849
- Ensembl rs1598381121
- Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 0.93
- SIFT 0.02
- EVE 0.61
- 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)