R128G (p.Arg128Gly) variant of TNFRSF1A (P19438)
R128G (p.Arg128Gly) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; TNF receptor-associated periodic fever syndrome (TRAPS); not speci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R128G (p.Arg128Gly) variant details
- p.Arg128Gly
- rs1592047526
- ClinGen CA383550153
- ClinVar RCV000804450
- ClinVar RCV005231353
- Uncertain significance
- not provided; TNF receptor-associated periodic fever syndrome (TRAPS); not speci
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.40
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (not provided; TNF receptor-associated periodic fever syndrome (T)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)