L1641R (p.Leu1641Arg) variant of SCN8A (Nav1.6)
L1641R (p.Leu1641Arg) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizure; Infantile spasms; Epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
L1641R (p.Leu1641Arg) variant details
- p.Leu1641Arg
- rs1592174304
- ClinGen CA384880520
- ClinVar RCV001003603
- Ensembl rs1592174304
- Likely pathogenic
- Seizure; Infantile spasms; Epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Seizure; Infantile spasms; Epileptic encephalopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available