R114C (p.Arg114Cys) variant of STAT3 (P40763)
R114C (p.Arg114Cys) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R114C (p.Arg114Cys) variant details
- p.Arg114Cys
- rs964892419
- ClinGen CA290746475
- cosmic curated COSV99233
- ClinVar RCV001953167
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.77
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)