R154G (p.Arg154Gly) variant of STAT3 (P40763)
R154G (p.Arg154Gly) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R154G (p.Arg154Gly) variant details
- p.Arg154Gly
- rs2082347176
- ClinGen CA399594965
- ClinVar RCV001242795
- Ensembl rs2082347176
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.27
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.25
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)