N70S (p.Asn70Ser) variant of TNFRSF1A (P19438)
N70S (p.Asn70Ser) 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 0.39 / 1. The record also includes published literature and structural context.
N70S (p.Asn70Ser) variant details
- p.Asn70Ser
- rs1948084769
- ClinGen CA383550735
- cosmic curated COSV50829
- ClinVar RCV001303475
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- AlphaMissense 0.09
- MetaLR 0.37
- MetaSVM -0.68
- PolyPhen-2 0.01
- SIFT 0.59
- EVE 0.20
- 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)