C102W (p.Cys102Trp) variant of TNFRSF1A (P19438)
C102W (p.Cys102Trp) 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 0.96 / 1. The record also includes published literature and structural context.
C102W (p.Cys102Trp) variant details
- p.Cys102Trp
- rs104895249
- ClinGen CA280827
- ClinVar RCV000083943
- Ensembl rs104895249
- Pathogenic
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)