G421E (p.Gly421Glu) variant of STAT3 (P40763)
G421E (p.Gly421Glu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G421E (p.Gly421Glu) variant details
- p.Gly421Glu
- rs2081893936
- ClinGen CA399588455
- ClinVar RCV002975063
- Ensembl rs2081893936
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.70
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Likely pathogenic (in ADMIO1)
- UniProt: Likely pathogenic (in ADMIO1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)