H51R (p.His51Arg) variant of TNFRSF1A (P19438)
H51R (p.His51Arg) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
H51R (p.His51Arg) variant details
- p.His51Arg
- rs104895289
- ClinGen CA280707
- ClinVar RCV000083900
- ClinVar RCV004589549
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.91
- MetaLR 0.80
- MetaSVM 0.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in FPF)
- UniProt: Uncertain significance (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)