H51Y (p.His51Tyr) variant of TNFRSF1A (P19438)
H51Y (p.His51Tyr) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
H51Y (p.His51Tyr) variant details
- p.His51Tyr
- rs104895227
- ClinGen CA280704
- ClinVar RCV000083899
- ClinVar RCV001701502
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.53
- MetaLR 0.83
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in FPF)
- UniProt: Pathogenic (in FPF)
- 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)