G10R (p.Gly10Arg) variant of SCN1A (P35498)
G10R (p.Gly10Arg) in SCN1A (P35498) 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.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- gnomAD rs1459246073
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available