C81F (p.Cys81Phe) variant of TNFRSF1A (P19438)
C81F (p.Cys81Phe) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C81F (p.Cys81Phe) variant details
- p.Cys81Phe
- rs104895220
- ClinGen CA280151
- ClinVar RCV000013131
- ClinVar RCV000286522
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.90
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in FPF)
- UniProt: Pathogenic (in FPF)
- Population evidence available
- Structural context available
- Cited in: Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly… (PMID 10199409)
- Cited in: A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant… (PMID 10902757)