C84Y (p.Cys84Tyr) variant of TNFRSF1A (P19438)
C84Y (p.Cys84Tyr) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not specified; 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.
C84Y (p.Cys84Tyr) variant details
- p.Cys84Tyr
- rs104895224
- ClinGen CA280778
- ClinVar RCV000083926
- ClinVar RCV001002161
- Pathogenic
- not specified; TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.91
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.84
- CADD 24.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not specified; TNF receptor-associated periodic fever syndrome ()
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)
- Cited in: ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the… (PMID 32176780)