R121P (p.Arg121Pro) variant of TNFRSF1A (P19438)
R121P (p.Arg121Pro) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R121P (p.Arg121Pro) variant details
- p.Arg121Pro
- rs4149584
- ClinGen CA280157
- ClinVar RCV000013134
- UniProt VAR 019305
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.54
- CADD 17.90
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Pathogenic (in FPF)
- UniProt: Pathogenic (in FPF)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation… (PMID 11175303)
- Cited in: Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. (PMID 13130484)