G618R (p.Gly618Arg) variant of STAT3 (P40763)
G618R (p.Gly618Arg) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G618R (p.Gly618Arg) variant details
- p.Gly618Arg
- rs2081548277
- ClinGen CA399582819
- cosmic curated COSV52882
- ClinVar RCV001553660
- Conflicting interpretations
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.90
- CADD 27.90
- ClinVar: Conflicting classifications of pathogenicity (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)