L56V (p.Leu56Val) variant of SCN2A (Q99250)
L56V (p.Leu56Val) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
L56V (p.Leu56Val) variant details
- p.Leu56Val
- cosmic curated COSV99333
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- ESM-1b 1.00
- AlphaMissense 0.34
- Structural context available