V73A (p.Val73Ala) variant of SCN1A (P35498)
V73A (p.Val73Ala) in SCN1A (P35498) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The record also includes structural context.
V73A (p.Val73Ala) variant details
- p.Val73Ala
- TOPMed rs1684668753
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- UniProt: Uncertain significance
- Structural context available