Y861C (p.Tyr861Cys) variant of NLRP3 (Q96P20)
Y861C (p.Tyr861Cys) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial amyloid nephropathy with urticaria AND deafness; Hearing loss, autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
Y861C (p.Tyr861Cys) variant details
- p.Tyr861Cys
- rs180177452
- UniProt VAR 023551
- Pathogenic/Likely pathogenic
- Familial amyloid nephropathy with urticaria AND deafness; Hearing loss, autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.70
- MetaLR 0.13
- MetaSVM -1.02
- PolyPhen-2 1.00
- SIFT 0.07
- MutPred 0.55
- ClinVar: Pathogenic/Likely pathogenic (Familial amyloid nephropathy with urticaria AND deafness; Hearin)
- EBI: Pathogenic (in CINCA)
- UniProt: Pathogenic (in CINCA)
- Structural context available
- Cited in: Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat… (PMID 15334500)
- Cited in: Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly… (PMID 12032915)