R121W (p.Arg121Trp) variant of TNFRSF1A (P19438)
R121W (p.Arg121Trp) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R121W (p.Arg121Trp) variant details
- p.Arg121Trp
- rs104895276
- ClinGen CA280837
- ClinVar RCV000083947
- TOPMed rs104895276
- Likely pathogenic
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.55
- CADD 24.20
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Likely pathogenic (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Likely pathogenic (in FPF)
- UniProt: Likely pathogenic (in FPF)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)