C59R (p.Cys59Arg) variant of TNFRSF1A (P19438)
C59R (p.Cys59Arg) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C59R (p.Cys59Arg) variant details
- p.Cys59Arg
- rs104895217
- ClinGen CA280149
- ClinVar RCV000013130
- ClinVar RCV000413303
- Pathogenic
- not provided; TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (not provided; TNF receptor-associated periodic fever syndrome (T)
- 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: A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant… (PMID 10902757)