L6M (p.Leu6Met) variant of SCN2A (Q99250)
L6M (p.Leu6Met) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- rs2467837709
- ClinGen CA349009662
- ClinVar RCV002290312
- Uncertain significance
- Developmental and epileptic encephalopathy, 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- ESM-1b 0.00
- AlphaMissense 0.16
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 11)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available