E26K (p.Glu26Lys) variant of SCN2A (Q99250)
E26K (p.Glu26Lys) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- cosmic curated COSV10510
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- ESM-1b 1.00
- AlphaMissense 0.41
- Structural context available