R70H (p.Arg70His) variant of STAT3 (P40763)
R70H (p.Arg70His) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R70H (p.Arg70His) variant details
- p.Arg70His
- rs2144992163
- ClinGen CA399596964
- ClinVar RCV001910614
- Ensembl rs2144992163
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.35
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Variant of uncertain significance (in ADMIO1)
- UniProt: Uncertain significance (in ADMIO1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. (PMID 36228738)
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)