I1346V (p.Ile1346Val) variant of SCN2A (Nav1.2)
I1346V (p.Ile1346Val) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.81 / 1. The record also includes published literature and structural context.
I1346V (p.Ile1346Val) variant details
- p.Ile1346Val
- rs796053135
- ClinGen CA317957
- ClinVar RCV000189148
- ClinVar RCV001379123
- Pathogenic
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- ESM-1b 1.00
- AlphaMissense 0.63
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)