L68F (p.Leu68Phe) variant of TNFRSF1A (P19438)
L68F (p.Leu68Phe) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L68F (p.Leu68Phe) variant details
- p.Leu68Phe
- rs104895262
- ClinGen CA280742
- ClinVar RCV000083914
- Ensembl rs104895262
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.57
- CADD 20.70
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (TNF receptor-associated periodic fever syndrome (TRAPS))
- UniProt: Uncertain significance
- 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)