I659N (p.Ile659Asn) variant of STAT3 (P40763)
I659N (p.Ile659Asn) 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 0.79 / 1. The record also includes published literature and structural context.
I659N (p.Ile659Asn) variant details
- p.Ile659Asn
- rs1555563717
- ClinGen CA399581938
- ClinVar RCV000585688
- ClinVar RCV001860114
- Pathogenic/Likely pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 0.99
- MetaLR 0.79
- MetaSVM 0.73
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.57
- 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)