K1508I (p.Lys1508Ile) variant of SCN2A (Nav1.2)
K1508I (p.Lys1508Ile) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy; West syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
K1508I (p.Lys1508Ile) variant details
- p.Lys1508Ile
- rs2105385886
- ClinGen CA349034871
- ClinVar RCV001847357
- Ensembl rs2105385886
- Pathogenic
- Developmental and epileptic encephalopathy; West syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy; West syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available