R107W (p.Arg107Trp) variant of STAT3 (P40763)
R107W (p.Arg107Trp) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R107W (p.Arg107Trp) variant details
- p.Arg107Trp
- rs2082662047
- ClinGen CA399596557
- NCI-TCGA Cosmic COSV5288
- cosmic curated COSV52884
- Uncertain significance
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.52
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.11
- ClinVar: Uncertain significance (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Variant of uncertain significance (in ADMIO1)
- UniProt: Uncertain significance (in ADMIO1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)