Q125E (p.Gln125Glu) variant of STAT3 (P40763)
Q125E (p.Gln125Glu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q125E (p.Gln125Glu) variant details
- p.Gln125Glu
- rs574370336
- ClinGen CA8575646
- ClinVar RCV000658779
- ClinVar RCV001198591
- Conflicting interpretations
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.39
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Conflicting classifications of pathogenicity (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)