R335Q (p.Arg335Gln) variant of STAT3 (P40763)
R335Q (p.Arg335Gln) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3-related earl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R335Q (p.Arg335Gln) variant details
- p.Arg335Gln
- rs776115471
- ClinGen CA8575498
- ClinVar RCV003150889
- ClinVar RCV003150890
- Conflicting interpretations
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3-related earl
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.82
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)