C99S (p.Cys99Ser) variant of TNFRSF1A (P19438)
C99S (p.Cys99Ser) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C99S (p.Cys99Ser) variant details
- p.Cys99Ser
- rs104895228
- ClinGen CA280163
- ClinVar RCV000013138
- UniProt VAR 019304
- Pathogenic
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Pathogenic (in FPF)
- UniProt: Pathogenic (in FPF)
- Structural context available
- Cited in: Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. (PMID 13130484)
- Cited in: Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese… (PMID 14610673)