E38Q (p.Glu38Gln) variant of TNFRSF1A (P19438)
E38Q (p.Glu38Gln) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TNF receptor-associated periodic fever syndrome (TRAPS). The record also includes published literature and structural context.
E38Q (p.Glu38Gln) variant details
- p.Glu38Gln
- rs2497801346
- ClinGen CA383551076
- ClinVar RCV003141053
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- ClinVar: Uncertain significance (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)