C102F (p.Cys102Phe) variant of TNFRSF1A (P19438)
C102F (p.Cys102Phe) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
C102F (p.Cys102Phe) variant details
- p.Cys102Phe
- rs1555108112
- ClinGen CA383550413
- ClinVar RCV001994995
- Ensembl rs1555108112
- Likely pathogenic
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.94
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.84
- CADD 28.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)