S103C (p.Ser103Cys) variant of TNFRSF1A (P19438)
S103C (p.Ser103Cys) 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 0.72 / 1. The record also includes published literature and structural context.
S103C (p.Ser103Cys) variant details
- p.Ser103Cys
- rs104895283
- ClinGen CA280830
- ClinVar RCV000083944
- Ensembl rs104895283
- not provided
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- AlphaMissense 0.65
- MetaLR 0.83
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.91
- ClinVar: not provided (TNF receptor-associated periodic fever syndrome (TRAPS))
- UniProt: Not provided
- 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)