T90N (p.Thr90Asn) variant of TNFRSF1A (P19438)
T90N (p.Thr90Asn) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T90N (p.Thr90Asn) variant details
- p.Thr90Asn
- rs34751757
- ClinGen CA280797
- ClinVar RCV000083933
- 1000Genomes rs34751757
- not provided
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- AlphaMissense 0.40
- MetaLR 0.84
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.28
- ClinVar: not provided (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Likely benign
- UniProt: Likely benign
- 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)