G126E (p.Gly126Glu) variant of STAT3 (P40763)
G126E (p.Gly126Glu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G126E (p.Gly126Glu) variant details
- p.Gly126Glu
- rs777883261
- ClinGen CA8575644
- cosmic curated COSV52883
- ClinVar RCV001350580
- Likely benign
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.41
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.30
- ClinVar: Likely benign (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)