G87S (p.Gly87Ser) variant of TNFRSF1A (P19438)
G87S (p.Gly87Ser) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TNF receptor-associated periodic fever syndrome (TRAPS); not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G87S (p.Gly87Ser) variant details
- p.Gly87Ser
- rs1274938366
- ClinGen CA383550567
- ClinVar RCV003513621
- ClinVar RCV005255766
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS); not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.74
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (TNF receptor-associated periodic fever syndrome (TRAPS); not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)