C81Y (p.Cys81Tyr) variant of TNFRSF1A (P19438)
C81Y (p.Cys81Tyr) in TNFRSF1A (P19438) is a missense change. The available record places it in the context of TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C81Y (p.Cys81Tyr) variant details
- p.Cys81Tyr
- rs104895220
- ClinGen CA280766
- ClinVar RCV000083922
- Ensembl rs104895220
- not provided
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.90
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Pathogenic (in FPF)
- UniProt: Pathogenic (in FPF)
- Population evidence available
- 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)