A441V (p.Ala441Val) variant of NLRP3 (Q96P20)
A441V (p.Ala441Val) 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; Hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
A441V (p.Ala441Val) variant details
- p.Ala441Val
- rs121908146
- UniProt VAR 013229
- Pathogenic/Likely pathogenic
- Autoinflammatory syndrome; Cryopyrin associated periodic syndrome; Hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 0.43
- MetaLR 0.68
- MetaSVM 0.61
- PolyPhen-2 0.93
- SIFT 0.00
- MutPred 0.53
- ClinVar: Pathogenic/Likely pathogenic (Autoinflammatory syndrome; Cryopyrin associated periodic syndrom)
- 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)