C117Y (p.Cys117Tyr) variant of TNFRSF1A (P19438)
C117Y (p.Cys117Tyr) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C117Y (p.Cys117Tyr) variant details
- p.Cys117Tyr
- rs104895222
- ClinGen CA280155
- ClinVar RCV000013133
- UniProt VAR 013415
- Pathogenic
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Pathogenic (in FPF)
- UniProt: Pathogenic (in FPF)
- Structural context available
- Cited in: Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly… (PMID 10199409)
- Cited in: Autosomal dominant 'Mediterranean fever' in a Finnish family. (PMID 1402641)