V20M (p.Val20Met) variant of TNFRSF1A (P19438)
V20M (p.Val20Met) 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.
V20M (p.Val20Met) variant details
- p.Val20Met
- rs2497801546
- ClinGen CA383551250
- ClinVar RCV003624878
- 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)