R262W (p.Arg262Trp) variant of NLRP3 (Q96P20)
R262W (p.Arg262Trp) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cryopyrin associated periodic syndrome; not provided. The record also includes published literature and structural context.
R262W (p.Arg262Trp) variant details
- p.Arg262Trp
- rs121908150
- UniProt VAR 014104
- Pathogenic/Likely pathogenic
- Cryopyrin associated periodic syndrome; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Cryopyrin associated periodic syndrome; not provided)
- EBI: Pathogenic (in FCAS1 and MWS)
- UniProt: Pathogenic (in FCAS1 and MWS)
- Structural context available
- Cited in: New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation… (PMID 11992256)
- Cited in: Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold… (PMID 12355493)