L269F (p.Leu269Phe) variant of SCN2A (Nav1.2)
L269F (p.Leu269Phe) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of West syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
L269F (p.Leu269Phe) variant details
- p.Leu269Phe
- rs2105247416
- ClinGen CA349018170
- ClinVar RCV001847358
- Ensembl rs2105247416
- Pathogenic
- West syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic (West syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available