R278C (p.Arg278Cys) variant of STAT3 (P40763)
R278C (p.Arg278Cys) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R278C (p.Arg278Cys) variant details
- p.Arg278Cys
- rs1555566945
- ClinGen CA399591436
- NCI-TCGA Cosmic COSV5289
- cosmic curated COSV52890
- Likely pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.68
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Pathogenic (in ADMIO1)
- UniProt: Pathogenic (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)