L62R (p.Leu62Arg) variant of SCN2A (Q99250)
L62R (p.Leu62Arg) 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 0.83 / 1. The record also includes population frequency data and structural context.
L62R (p.Leu62Arg) variant details
- p.Leu62Arg
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.08
- CADD 27.40
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available