E629G (p.Glu629Gly) variant of NLRP3 (Q96P20)
E629G (p.Glu629Gly) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoinflammatory syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
E629G (p.Glu629Gly) variant details
- p.Glu629Gly
- rs121908148
- UniProt VAR 013230
- Likely pathogenic
- Autoinflammatory syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- AlphaMissense 0.82
- MetaLR 0.64
- MetaSVM 0.48
- PolyPhen-2 0.54
- SIFT 0.00
- MutPred 0.69
- ClinVar: Likely pathogenic (Autoinflammatory syndrome)
- EBI: Pathogenic (in FCAS1)
- UniProt: Pathogenic (in FCAS1)
- 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)