P37L (p.Pro37Leu) variant of SCN1A (Nav1.1)
P37L (p.Pro37Leu) in SCN1A (Nav1.1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- NCI-TCGA TCGA novel
- TOPMed rs963757668
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available