C81R (p.Cys81Arg) variant of TNFRSF1A (P19438)
C81R (p.Cys81Arg) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C81R (p.Cys81Arg) variant details
- p.Cys81Arg
- rs104895232
- ClinGen CA280763
- ClinVar RCV000083921
- Ensembl rs104895232
- Likely pathogenic
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.89
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.83
- CADD 25.80
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Likely pathogenic (in FPF)
- UniProt: Likely 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)