G48C (p.Gly48Cys) variant of SCN1A (P35498)
G48C (p.Gly48Cys) in SCN1A (P35498) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
G48C (p.Gly48Cys) variant details
- p.Gly48Cys
- NCI-TCGA Cosmic COSV5767
- cosmic curated COSV57674
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available