T438I (p.Thr438Ile) variant of NLRP3 (Q96P20)
T438I (p.Thr438Ile) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T438I (p.Thr438Ile) variant details
- p.Thr438Ile
- rs180177433
- UniProt VAR 043688
- Pathogenic/Likely pathogenic
- Cryopyrin associated periodic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.78
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cryopyrin associated periodic syndrome; not provided)
- EBI: Pathogenic (in CINCA)
- UniProt: Pathogenic (in CINCA)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)