L355P (p.Leu355Pro) variant of NLRP3 (Q96P20)
L355P (p.Leu355Pro) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cryopyrin associated periodic syndrome; Familial amyloid nephropathy with urtica. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
L355P (p.Leu355Pro) variant details
- p.Leu355Pro
- rs28937896
- UniProt VAR 043685
- Pathogenic
- Cryopyrin associated periodic syndrome; Familial amyloid nephropathy with urtica
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.82
- MetaLR 0.63
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.79
- ClinVar: Pathogenic (Cryopyrin associated periodic syndrome; Familial amyloid nephrop)
- EBI: Pathogenic (in FCAS1)
- UniProt: Pathogenic (in FCAS1)
- Structural context available
- Cited in: Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. (PMID 12522564)
- Cited in: Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and… (PMID 11687797)