R121G (p.Arg121Gly) variant of TNFRSF1A (P19438)
R121G (p.Arg121Gly) 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). The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R121G (p.Arg121Gly) variant details
- p.Arg121Gly
- TOPMed rs104895276
- gnomAD rs104895276
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.44
- CADD 23.30
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Uncertain significance (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Likely pathogenic (in FPF)
- UniProt: Likely pathogenic (in FPF)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available