R423Q (p.Arg423Gln) variant of STAT3 (P40763)
R423Q (p.Arg423Gln) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R423Q (p.Arg423Gln) variant details
- p.Arg423Gln
- rs113994137
- ClinGen CA341508
- NCI-TCGA Cosmic COSV5288
- cosmic curated COSV52885
- Pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Pathogenic (in HIES1)
- UniProt: Pathogenic (in HIES1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: STAT3 mutations in the hyper-IgE syndrome. (PMID 17881745)
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)