A104V (p.Ala104Val) variant of SCN1A (Nav1.1)
A104V (p.Ala104Val) in SCN1A (Nav1.1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
A104V (p.Ala104Val) variant details
- p.Ala104Val
- cosmic curated COSV57660
- Ensembl rs1553553527
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available