R278H (p.Arg278His) variant of STAT3 (P40763)
R278H (p.Arg278His) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R278H (p.Arg278His) variant details
- p.Arg278His
- rs2082128828
- ClinGen CA399591431
- NCI-TCGA Cosmic COSV5288
- cosmic curated COSV52885
- Pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.54
- CADD 25.20
- ClinVar: Pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Pathogenic (in ADMIO1)
- UniProt: Pathogenic (in ADMIO1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate… (PMID 28579554)
- Cited in: Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. (PMID 36228738)