P37L (p.Pro37Leu) variant of SCN8A (Q9UQD0)
P37L (p.Pro37Leu) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- TOPMed rs1339579428
- gnomAD rs1339579428
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.41
- ESM-1b 0.15
- AlphaMissense 0.08
- MetaLR 0.81
- MetaSVM 0.68
- SIFT 0.01
- Structural context available