C72S (p.Cys72Ser) variant of TNFRSF1A (P19438)
C72S (p.Cys72Ser) in TNFRSF1A (P19438) is a missense change. The available record places it in the context of TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C72S (p.Cys72Ser) variant details
- p.Cys72Ser
- rs104895252
- ClinGen CA280754
- ClinVar RCV000083918
- Ensembl rs104895252
- not provided
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: not provided (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)