I174T (p.Ile174Thr) variant of NLRP3 (Q96P20)
I174T (p.Ile174Thr) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cryopyrin associated periodic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
I174T (p.Ile174Thr) variant details
- p.Ile174Thr
- rs180177449
- UniProt VAR 043679
- Likely pathogenic
- Cryopyrin associated periodic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.17
- MetaLR 0.38
- MetaSVM -0.70
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.44
- ClinVar: Likely pathogenic (Cryopyrin associated periodic syndrome)
- EBI: Pathogenic (in CINCA)
- UniProt: Pathogenic (in CINCA)
- Structural context available
- Cited in: A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset… (PMID 15231984)
- Cited in: Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly… (PMID 12032915)