P32R (p.Pro32Arg) variant of TNFRSF1A (P19438)
P32R (p.Pro32Arg) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
P32R (p.Pro32Arg) variant details
- p.Pro32Arg
- rs1592048275
- ClinGen CA383551126
- ClinVar RCV000796810
- Ensembl rs1592048275
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 0.16
- MetaLR 0.95
- MetaSVM 0.80
- PolyPhen-2 0.97
- SIFT 0.01
- MutPred 0.50
- ClinVar: Uncertain significance (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)