A58T (p.Ala58Thr) variant of SCN2A (Q99250)
A58T (p.Ala58Thr) 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.
A58T (p.Ala58Thr) variant details
- p.Ala58Thr
- TOPMed rs1468468653
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- ESM-1b 1.00
- AlphaMissense 0.41
- Structural context available