F89L (p.Phe89Leu) variant of TNFRSF1A (P19438)
F89L (p.Phe89Leu) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
F89L (p.Phe89Leu) variant details
- p.Phe89Leu
- rs104895266
- ClinGen CA280796
- ClinVar RCV000083932
- Ensembl rs104895266
- not provided
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.60
- CADD 21.30
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: not provided (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)