K905E (p.Lys905Glu) variant of SCN2A (Nav1.2)
K905E (p.Lys905Glu) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
K905E (p.Lys905Glu) variant details
- p.Lys905Glu
- rs886043250
- ClinGen CA10605291
- ClinVar RCV000597678
- ClinVar RCV001297263
- Likely pathogenic
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Likely pathogenic (in DEE11)
- UniProt: Likely pathogenic (in DEE11)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)