C117G (p.Cys117Gly) variant of TNFRSF1A (P19438)
C117G (p.Cys117Gly) 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 0.96 / 1. The record also includes published literature and structural context.
C117G (p.Cys117Gly) variant details
- p.Cys117Gly
- rs104895221
- ClinGen CA383550258
- ClinVar RCV002601704
- Likely pathogenic
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Likely pathogenic (in FPF)
- UniProt: Likely pathogenic (in FPF)
- 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)