L1563V (p.Leu1563Val) variant of SCN2A (Nav1.2)
L1563V (p.Leu1563Val) 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, 11; Seizures, benign familial infant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
L1563V (p.Leu1563Val) variant details
- p.Leu1563Val
- rs121917750
- ClinGen CA122769
- ClinVar RCV000013737
- ClinVar RCV000255820
- Pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.97
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Pathogenic (in BFIS3)
- UniProt: Pathogenic (in BFIS3)
- Structural context available
- Cited in: Sodium-channel defects in benign familial neonatal-infantile seizures. (PMID 12243921)
- Cited in: Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile… (PMID 17021166)