T407P (p.Thr407Pro) variant of NLRP3 (Q96P20)
T407P (p.Thr407Pro) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cryopyrin associated periodic syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
T407P (p.Thr407Pro) variant details
- p.Thr407Pro
- rs180177445
- UniProt VAR 043687
- Pathogenic/Likely pathogenic
- Cryopyrin associated periodic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.36
- MetaLR 0.71
- MetaSVM 0.41
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.70
- ClinVar: Pathogenic/Likely pathogenic (Cryopyrin associated periodic syndrome; not provided)
- 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)