L112V (p.Leu112Val) variant of SCN10A (Q9Y5Y9)
L112V (p.Leu112Val) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
L112V (p.Leu112Val) variant details
- p.Leu112Val
- rs2470895374
- ClinGen CA352161040
- ClinVar RCV002320965
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available