L22V (p.Leu22Val) variant of SCN2A (Q99250)
L22V (p.Leu22Val) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- TOPMed rs1449575863
- gnomAD rs1449575863
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- ESM-1b 1.00
- AlphaMissense 0.26
- Structural context available