P52T (p.Pro52Thr) variant of SCN2A (Q99250)
P52T (p.Pro52Thr) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
P52T (p.Pro52Thr) variant details
- p.Pro52Thr
- cosmic curated COSV99032
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- ESM-1b 1.00
- AlphaMissense 0.81
- Structural context available