R1315S (p.Arg1315Ser) variant of SCN2A (Nav1.2)
R1315S (p.Arg1315Ser) 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 1.00 / 1. The record also includes structural context.
R1315S (p.Arg1315Ser) variant details
- p.Arg1315Ser
- rs2468096296
- cosmic curated COSV51839
- ClinGen CA349030002
- ClinVar RCV003155986
- Likely pathogenic
- Infantile spasms
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Infantile spasms)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available