S115F (p.Ser115Phe) variant of TNFRSF1A (P19438)
S115F (p.Ser115Phe) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S115F (p.Ser115Phe) variant details
- p.Ser115Phe
- rs748818440
- ClinGen CA6405564
- cosmic curated COSV50604
- ClinVar RCV002050288
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.49
- CADD 23.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Variant of uncertain significance (in FPF)
- UniProt: Uncertain significance (in FPF)
- Most common in the South Asian population (allele frequency 4.6e-05)
- 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)