L56M (p.Leu56Met) variant of SCN2A (Q99250)
L56M (p.Leu56Met) 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 0.24 / 1. The record also includes structural context.
L56M (p.Leu56Met) variant details
- p.Leu56Met
- NCI-TCGA Cosmic COSV5183
- cosmic curated COSV51832
- NCI-TCGA Cosmic COSV9933
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- ESM-1b 0.00
- AlphaMissense 0.39
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available