F525C (p.Phe525Cys) variant of NLRP3 (Q96P20)
F525C (p.Phe525Cys) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cryopyrin associated periodic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
F525C (p.Phe525Cys) variant details
- p.Phe525Cys
- rs180177478
- UniProt VAR 031853
- Pathogenic
- Cryopyrin associated periodic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.69
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.75
- ClinVar: Pathogenic (Cryopyrin associated periodic syndrome)
- EBI: Pathogenic (in FCAS1)
- UniProt: Pathogenic (in FCAS1)
- Structural context available
- Cited in: A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory… (PMID 17284928)
- Cited in: Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and… (PMID 11687797)