L56S (p.Leu56Ser) variant of SCN2A (Q99250)
L56S (p.Leu56Ser) in SCN2A (Q99250) 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 0.99 / 1. The record also includes structural context.
L56S (p.Leu56Ser) variant details
- p.Leu56Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available