V200M (p.Val200Met) variant of NLRP3 (Q96P20)
V200M (p.Val200Met) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Keratitis fugax hereditaria; Hearing loss, autosomal dominant 34, with or withou. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
V200M (p.Val200Met) variant details
- p.Val200Met
- rs121908147
- UniProt VAR 013227
- Conflicting interpretations
- Keratitis fugax hereditaria; Hearing loss, autosomal dominant 34, with or withou
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- AlphaMissense 0.07
- MetaLR 0.21
- MetaSVM -0.73
- PolyPhen-2 0.07
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Keratitis fugax hereditaria; Hearing loss, autosomal dominant 34)
- EBI: Pathogenic (in FCAS1 and MWS)
- UniProt: Pathogenic (in FCAS1 and 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)