L108V (p.Leu108Val) variant of SCN1A (Nav1.1)
L108V (p.Leu108Val) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L108V (p.Leu108Val) variant details
- p.Leu108Val
- rs779413164
- ClinGen CA1943535
- ClinVar RCV006562351
- ExAC rs779413164
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 22.80
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance (in DRVT)
- UniProt: Uncertain significance (in DRVT)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available