A702T (p.Ala702Thr) variant of STAT3 (P40763)
A702T (p.Ala702Thr) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A702T (p.Ala702Thr) variant details
- p.Ala702Thr
- rs747667389
- ClinGen CA8575160
- cosmic curated COSV52888
- ClinVar RCV000934028
- Likely benign
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.34
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Likely benign (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)