D305N (p.Asp305Asn) variant of NLRP3 (Q96P20)
D305N (p.Asp305Asn) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cryopyrin associated periodic syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
D305N (p.Asp305Asn) variant details
- p.Asp305Asn
- rs121908153
- UniProt VAR 014105
- Pathogenic
- Cryopyrin associated periodic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 0.92
- MetaLR 0.82
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.94
- ClinVar: Pathogenic (Cryopyrin associated periodic syndrome; not provided)
- EBI: Pathogenic (in CINCA and MWS)
- UniProt: Pathogenic (in CINCA and 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: Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly… (PMID 12032915)