G571R (p.Gly571Arg) variant of NLRP3 (Q96P20)
G571R (p.Gly571Arg) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G571R (p.Gly571Arg) variant details
- p.Gly571Arg
- rs121908151
- UniProt VAR 014107
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.66
- MetaLR 0.91
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.59
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in MWS)
- UniProt: Pathogenic (in MWS)
- Structural context available
- Cited in: New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation… (PMID 11992256)
- Cited in: Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and… (PMID 11687797)