T90I (p.Thr90Ile) variant of TNFRSF1A (P19438)
T90I (p.Thr90Ile) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; TNF receptor-associated periodic fever syndrome (TR. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T90I (p.Thr90Ile) variant details
- p.Thr90Ile
- rs34751757
- ClinGen CA6405581
- ClinVar RCV000756797
- ClinVar RCV001078480
- Conflicting interpretations
- not specified; not provided; TNF receptor-associated periodic fever syndrome (TR
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.59
- AlphaMissense 0.40
- MetaLR 0.84
- MetaSVM 0.29
- CADD 19.80
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; TNF receptor-associated periodic fe)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.0098)
- 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)