M1L (p.Met1Leu) variant of SCN2A (Q99250)
M1L (p.Met1Leu) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1553564139
- ClinGen CA349009610
- ClinVar RCV000677679
- Likely pathogenic
- Developmental and epileptic encephalopathy, 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- ESM-1b 0.34
- AlphaMissense 0.31
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 11)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available