E31K (p.Glu31Lys) variant of SCN1A (P35498)
E31K (p.Glu31Lys) in SCN1A (P35498) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- gnomAD rs1368004941
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.06
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available