S4* (p.Ser4Ter) variant of SCN2A (Q99250)
S4* (p.Ser4Ter) in SCN2A (Q99250) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
S4* (p.Ser4Ter) variant details
- p.Ser4Ter
- rs1553564144
- cosmic curated COSV51832
- ClinGen CA349009650
- ClinVar RCV000504449
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.867
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available