A354V (p.Ala354Val) variant of NLRP3 (Q96P20)
A354V (p.Ala354Val) 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 0.68 / 1. The record also includes published literature and structural context.
A354V (p.Ala354Val) variant details
- p.Ala354Val
- rs121908149
- UniProt VAR 013228
- Pathogenic/Likely pathogenic
- Cryopyrin associated periodic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.56
- MetaLR 0.63
- MetaSVM 0.48
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.95
- ClinVar: Pathogenic/Likely pathogenic (Cryopyrin associated periodic syndrome; not provided)
- EBI: Pathogenic (in MWS)
- UniProt: Pathogenic (in MWS)
- Structural context available
- Cited in: Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and… (PMID 11687797)
- Cited in: New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation… (PMID 11992256)