G65E (p.Gly65Glu) variant of TNFRSF1A (P19438)
G65E (p.Gly65Glu) 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 0.97 / 1. The record also includes published literature and structural context.
G65E (p.Gly65Glu) variant details
- p.Gly65Glu
- rs104895239
- ClinGen CA280730
- ClinVar RCV000083910
- Ensembl rs104895239
- not provided
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- 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)