G96R (p.Gly96Arg) variant of SCN1A (Nav1.1)
G96R (p.Gly96Arg) in SCN1A (Nav1.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G96R (p.Gly96Arg) variant details
- p.Gly96Arg
- gnomAD rs1699367311
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available