R13Q (p.Arg13Gln) variant of STAT3 (P40763)
R13Q (p.Arg13Gln) 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 gain of func. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- rs780720013
- ClinGen CA8575728
- cosmic curated COSV10959
- ClinVar RCV000707027
- Conflicting interpretations
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.20
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)