I199N (p.Ile199Asn) variant of TNFRSF1A (P19438)
I199N (p.Ile199Asn) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
I199N (p.Ile199Asn) variant details
- p.Ile199Asn
- rs104895247
- ClinGen CA280877
- ClinVar RCV000083963
- ClinVar RCV001090622
- Pathogenic/Likely pathogenic
- not provided; TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.06
- MetaLR 0.42
- MetaSVM -0.35
- PolyPhen-2 0.00
- SIFT 0.69
- EVE 0.04
- ClinVar: Pathogenic/Likely pathogenic (not provided; TNF receptor-associated periodic fever syndrome (T)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)