C62Y (p.Cys62Tyr) variant of TNFRSF1A (P19438)
C62Y (p.Cys62Tyr) 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 0.95 / 1. The record also includes published literature and structural context.
C62Y (p.Cys62Tyr) variant details
- p.Cys62Tyr
- rs104895218
- ClinGen CA280145
- ClinVar RCV000013128
- UniProt VAR 013411
- Pathogenic
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- 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: Familial Hibernian fever. (PMID 7156325)