L6F (p.Leu6Phe) variant of SCN1A (Nav1.1)
L6F (p.Leu6Phe) in SCN1A (Nav1.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- gnomAD rs1684709579
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available