M664T (p.Met664Thr) variant of NLRP3 (Q96P20)
M664T (p.Met664Thr) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial amyloid nephropathy with urticaria AND deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
M664T (p.Met664Thr) variant details
- p.Met664Thr
- rs180177435
- UniProt VAR 014370
- Likely pathogenic
- Familial amyloid nephropathy with urticaria AND deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.11
- MetaLR 0.39
- MetaSVM -0.75
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.59
- ClinVar: Likely pathogenic (Familial amyloid nephropathy with urticaria AND deafness)
- 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)