P37H (p.Pro37His) variant of SCN1A (Nav1.1)
P37H (p.Pro37His) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Early-infantile DEE. The record also includes structural context.
P37H (p.Pro37His) variant details
- p.Pro37His
- TOPMed rs963757668
- Uncertain significance
- Inborn genetic diseases; Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available