C105W (p.Cys105Trp) variant of TNFRSF1A (P19438)
C105W (p.Cys105Trp) 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.
C105W (p.Cys105Trp) variant details
- p.Cys105Trp
- rs1565468122
- ClinGen CA383550379
- ClinVar RCV000693612
- Ensembl rs1565468122
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Uncertain significance (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)