K59R (p.Lys59Arg) variant of SCN1A (P35498)
K59R (p.Lys59Arg) in SCN1A (P35498) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K59R (p.Lys59Arg) variant details
- p.Lys59Arg
- gnomAD rs1684677001
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 23.70
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available