C81W (p.Cys81Trp) variant of TNFRSF1A (P19438)
C81W (p.Cys81Trp) 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 0.97 / 1. The record also includes published literature and structural context.
C81W (p.Cys81Trp) variant details
- p.Cys81Trp
- rs56002980
- ClinGen CA280769
- ClinVar RCV000083923
- TOPMed rs56002980
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Uncertain significance (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Likely benign (in FPF)
- UniProt: Likely benign (in FPF)
- Structural context available
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)
- Cited in: ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the… (PMID 32176780)