L57V (p.Leu57Val) variant of SCN10A (Q9Y5Y9)
L57V (p.Leu57Val) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome; Cardiovascular phenotype. The record also includes structural context.
L57V (p.Leu57Val) variant details
- p.Leu57Val
- ExAC rs751243180
- gnomAD rs751243180
- Uncertain significance
- Brugada syndrome; Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Brugada syndrome; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available