R335W (p.Arg335Trp) variant of STAT3 (P40763)
R335W (p.Arg335Trp) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.85 / 1. The record also includes published literature and structural context.
R335W (p.Arg335Trp) variant details
- p.Arg335Trp
- rs193922716
- ClinGen CA260531
- cosmic curated COSV10635
- ClinVar RCV000030463
- Pathogenic/Likely pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.09
- MutPred 0.83
- ClinVar: Pathogenic/Likely pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)