S74* (p.Ser74Ter) variant of SCN1A (P35498)
S74* (p.Ser74Ter) in SCN1A (P35498) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in GEFSP2. The record also includes structural context.
S74* (p.Ser74Ter) variant details
- p.Ser74Ter
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57659
- Uncertain significance
- in GEFSP2
- Stop Gained
- EBI: uncertain significance (in GEFSP2)
- UniProt: Uncertain significance (in GEFSP2)
- Structural context available