F575S (p.Phe575Ser) variant of NLRP3 (Q96P20)
F575S (p.Phe575Ser) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Chronic infantile neurological, cutaneous and articular syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
F575S (p.Phe575Ser) variant details
- p.Phe575Ser
- rs121908152
- UniProt VAR 014108
- Pathogenic
- Chronic infantile neurological, cutaneous and articular syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.47
- MetaLR 0.55
- MetaSVM 0.11
- PolyPhen-2 0.13
- SIFT 0.01
- MutPred 0.60
- ClinVar: Pathogenic (Chronic infantile neurological, cutaneous and articular syndrome)
- EBI: Pathogenic (in CINCA)
- UniProt: Pathogenic (in CINCA)
- Structural context available
- Cited in: Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly… (PMID 12032915)
- Cited in: De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset… (PMID 12483741)