P52Q (p.Pro52Gln) variant of SCN2A (Q99250)
P52Q (p.Pro52Gln) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
P52Q (p.Pro52Gln) variant details
- p.Pro52Gln
- cosmic curated COSV99331
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- ESM-1b 1.00
- AlphaMissense 0.84
- Structural context available