C59S (p.Cys59Ser) variant of TNFRSF1A (P19438)
C59S (p.Cys59Ser) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
C59S (p.Cys59Ser) variant details
- p.Cys59Ser
- rs104895223
- ClinGen CA280159
- ClinVar RCV000013135
- ClinVar RCV005411294
- Pathogenic/Likely pathogenic
- not provided; TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.90
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.82
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; TNF receptor-associated periodic fever syndrome (T)
- EBI: Pathogenic (in FPF)
- UniProt: Pathogenic (in FPF)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant… (PMID 10902757)
- Cited in: The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins… (PMID 11443543)