A134T (p.Ala134Thr) variant of STAT3 (P40763)
A134T (p.Ala134Thr) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A134T (p.Ala134Thr) variant details
- p.Ala134Thr
- rs2082349423
- ClinGen CA399595181
- ClinVar RCV003080420
- TOPMed rs2082349423
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.41
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.29
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)