R262L (p.Arg262Leu) variant of NLRP3 (Q96P20)
R262L (p.Arg262Leu) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cryopyrin associated periodic syndrome; Autoinflammatory syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
R262L (p.Arg262Leu) variant details
- p.Arg262Leu
- rs180177442
- UniProt VAR 043680
- Uncertain significance
- Cryopyrin associated periodic syndrome; Autoinflammatory syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- AlphaMissense 0.36
- MetaLR 0.68
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- ClinVar: Uncertain significance (Cryopyrin associated periodic syndrome)
- EBI: Pathogenic (in CINCA)
- UniProt: Pathogenic (in CINCA)
- Structural context available
- Cited in: Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory… (PMID 14630794)
- Cited in: Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly… (PMID 12032915)