T350M (p.Thr350Met) variant of NLRP3 (Q96P20)
T350M (p.Thr350Met) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autoinflammatory syndrome; Cryopyrin associated periodic syndrome; Chronic infan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
T350M (p.Thr350Met) variant details
- p.Thr350Met
- rs151344629
- UniProt VAR 014366
- Pathogenic
- Autoinflammatory syndrome; Cryopyrin associated periodic syndrome; Chronic infan
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.58
- MetaLR 0.84
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.76
- ClinVar: Pathogenic (Autoinflammatory syndrome; Cryopyrin associated periodic syndrom)
- EBI: Pathogenic (in MWS and CINCA)
- UniProt: Pathogenic (in MWS and CINCA)
- Structural context available
- Cited in: New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation… (PMID 11992256)
- Cited in: Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory… (PMID 14630794)