L939V (p.Leu939Val) variant of SCN2A (Nav1.2)
L939V (p.Leu939Val) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Infantile spasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
L939V (p.Leu939Val) variant details
- p.Leu939Val
- rs2468008251
- ClinGen CA349015806
- ClinVar RCV003155982
- Likely pathogenic
- Infantile spasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- ESM-1b 1.00
- AlphaMissense 0.96
- ClinVar: Likely pathogenic (Infantile spasms)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available