H95L (p.His95Leu) variant of TNFRSF1A (P19438)
H95L (p.His95Leu) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H95L (p.His95Leu) variant details
- p.His95Leu
- rs104895294
- ClinGen CA280806
- ClinVar RCV000083936
- Ensembl rs104895294
- not provided
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.47
- CADD 15.90
- PolyPhen-2 0.08
- SIFT 0.07
- ClinVar: not provided (TNF receptor-associated periodic fever syndrome (TRAPS))
- UniProt: Not provided
- Most common in the East Asian population (allele frequency 2.6e-05)
- 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)