H51Q (p.His51Gln) variant of TNFRSF1A (P19438)
H51Q (p.His51Gln) 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 0.71 / 1. The record also includes published literature and structural context.
H51Q (p.His51Gln) variant details
- p.His51Gln
- rs104895254
- ClinGen CA280710
- ClinVar RCV000083901
- UniProt VAR 019329
- not provided
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- AlphaMissense 0.94
- MetaLR 0.77
- MetaSVM -0.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: not provided (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Pathogenic (in FPF)
- UniProt: Pathogenic (in FPF)
- Structural context available
- Cited in: The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins… (PMID 11443543)
- Cited in: Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly… (PMID 10199409)