R121Q (p.Arg121Gln) variant of TNFRSF1A (P19438)
R121Q (p.Arg121Gln) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autoinflammatory syndrome; not specified; TNF receptor-associated periodic fever. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R121Q (p.Arg121Gln) variant details
- p.Arg121Gln
- rs4149584
- ClinGen CA280920
- cosmic curated COSV50610
- ClinVar RCV000200263
- Conflicting interpretations
- Autoinflammatory syndrome; not specified; TNF receptor-associated periodic fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.56
- CADD 2.72
- PolyPhen-2 0.02
- SIFT 0.66
- ClinVar: Conflicting classifications of pathogenicity (Autoinflammatory syndrome; not specified; TNF receptor-associate)
- EBI: Pathogenic (in FPF)
- UniProt: Pathogenic (in FPF)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.15)
- Structural context available
- Cited in: The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins… (PMID 11443543)
- Cited in: Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly… (PMID 10199409)