P80L (p.Pro80Leu) variant of SCN8A (Q9UQD0)
P80L (p.Pro80Leu) in SCN8A (Q9UQD0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
P80L (p.Pro80Leu) variant details
- p.Pro80Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- ESM-1b 1.00
- AlphaMissense 0.92
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available