E40K (p.Glu40Lys) variant of SCN2A (Q99250)
E40K (p.Glu40Lys) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs1553564192
- ClinGen CA349010031
- ClinVar RCV001304707
- Ensembl rs1553564192
- Uncertain significance
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.82
- MetaSVM 0.42
- CADD 22.80
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)