I711V (p.Ile711Val) variant of STAT3 (P40763)
I711V (p.Ile711Val) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hyper-IgE recurrent infection syndrome 1, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
I711V (p.Ile711Val) variant details
- p.Ile711Val
- rs1131691937
- ClinGen CA399580199
- cosmic curated COSV10586
- ClinVar RCV000493699
- Likely pathogenic
- not provided; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.58
- MetaLR 0.86
- MetaSVM 0.71
- PolyPhen-2 0.52
- SIFT 0.12
- EVE 0.16
- ClinVar: Likely pathogenic (not provided; Hyper-IgE recurrent infection syndrome 1, autosoma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)