L6R (p.Leu6Arg) variant of SCN1A (P35498)
L6R (p.Leu6Arg) in SCN1A (P35498) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L6R (p.Leu6Arg) variant details
- p.Leu6Arg
- TOPMed rs1684709117
- gnomAD rs1684709117
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 26.40
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available