Y49H (p.Tyr49His) variant of TNFRSF1A (P19438)
Y49H (p.Tyr49His) 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 0.90 / 1. The record also includes published literature and structural context.
Y49H (p.Tyr49His) variant details
- p.Tyr49His
- rs104895237
- ClinGen CA280698
- ClinVar RCV000083897
- Ensembl rs104895237
- not provided
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: not provided (TNF receptor-associated periodic fever syndrome (TRAPS))
- UniProt: Not provided
- 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)