D71V (p.Asp71Val) variant of TNFRSF1A (P19438)
D71V (p.Asp71Val) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
D71V (p.Asp71Val) variant details
- p.Asp71Val
- rs1592047919
- ClinGen CA383550726
- ClinVar RCV001002432
- ClinVar RCV002551695
- Uncertain significance
- not specified; TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.76
- MetaLR 0.82
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Uncertain significance (not specified; TNF receptor-associated periodic fever syndrome ()
- 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)