C58F (p.Cys58Phe) variant of TNFRSF1A (P19438)
C58F (p.Cys58Phe) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C58F (p.Cys58Phe) variant details
- p.Cys58Phe
- rs104895230
- ClinGen CA280718
- ClinVar RCV000083904
- Ensembl rs104895230
- Pathogenic
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.92
- AlphaMissense 0.94
- MetaLR 1.00
- MetaSVM 0.82
- CADD 26.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)