E356D (p.Glu356Asp) variant of NLRP3 (Q96P20)
E356D (p.Glu356Asp) 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 0.49 / 1. The record also includes published literature and structural context.
E356D (p.Glu356Asp) variant details
- p.Glu356Asp
- rs180177444
- UniProt VAR 043686
- not provided
- Familial cold autoinflammatory syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- AlphaMissense 0.22
- MetaLR 0.51
- MetaSVM -0.29
- PolyPhen-2 0.75
- SIFT 0.01
- MutPred 0.50
- ClinVar: not provided (Familial cold autoinflammatory syndrome 1)
- 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)