S42T (p.Ser42Thr) variant of TNFRSF1A (P19438)
S42T (p.Ser42Thr) 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 population frequency data, published literature, and structural context.
S42T (p.Ser42Thr) variant details
- p.Ser42Thr
- rs200140274
- ClinGen CA232330910
- ClinVar RCV003024163
- TOPMed rs200140274
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.61
- CADD 0.69
- ClinVar: Uncertain significance (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)