H134P (p.His134Pro) variant of TNFRSF1A (P19438)
H134P (p.His134Pro) 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 0.47 / 1. The record also includes published literature and structural context.
H134P (p.His134Pro) variant details
- p.His134Pro
- rs104895284
- ClinGen CA280855
- ClinVar RCV000083953
- Ensembl rs104895284
- not provided
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.70
- MetaLR 0.47
- MetaSVM -0.49
- PolyPhen-2 0.09
- SIFT 0.21
- EVE 0.34
- 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)