L307P (p.Leu307Pro) variant of NLRP3 (Q96P20)
L307P (p.Leu307Pro) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autoinflammatory syndrome; Cryopyrin associated periodic syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
L307P (p.Leu307Pro) variant details
- p.Leu307Pro
- rs180177431
- UniProt VAR 014124
- Pathogenic/Likely pathogenic
- Autoinflammatory syndrome; Cryopyrin associated periodic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.96
- MetaLR 0.67
- MetaSVM 0.36
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.88
- ClinVar: Pathogenic/Likely pathogenic (Autoinflammatory syndrome; Cryopyrin associated periodic syndrom)
- EBI: Pathogenic (in FCAS1 and MWS)
- UniProt: Pathogenic (in FCAS1 and MWS)
- Structural context available
- Cited in: Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold… (PMID 12355493)
- Cited in: Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the… (PMID 15593220)