Q308K (p.Gln308Lys) variant of NLRP3 (Q96P20)
Q308K (p.Gln308Lys) in NLRP3 (Q96P20) is a missense change. The available record places it in the context of Familial cold autoinflammatory syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
Q308K (p.Gln308Lys) variant details
- p.Gln308Lys
- rs180177432
- UniProt VAR 043684
- not provided
- Familial cold autoinflammatory syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- AlphaMissense 0.10
- MetaLR 0.31
- MetaSVM -0.59
- PolyPhen-2 0.36
- SIFT 0.06
- MutPred 0.53
- ClinVar: not provided (Familial cold autoinflammatory syndrome 1)
- 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)