D305G (p.Asp305Gly) variant of NLRP3 (Q96P20)
D305G (p.Asp305Gly) 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 0.90 / 1. The record also includes published literature and structural context.
D305G (p.Asp305Gly) variant details
- p.Asp305Gly
- rs180177447
- UniProt VAR 043683
- Pathogenic
- Cryopyrin associated periodic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.90
- MetaLR 0.85
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Pathogenic (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)