I1473T (p.Ile1473Thr) variant of SCN2A (Nav1.2)
I1473T (p.Ile1473Thr) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
I1473T (p.Ile1473Thr) variant details
- p.Ile1473Thr
- rs1085307898
- ClinGen CA349034225
- ClinVar RCV000490193
- ClinVar RCV001851317
- Pathogenic/Likely pathogenic
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.97
- MetaSVM 1.06
- CADD 27.40
- ClinVar: Pathogenic/Likely pathogenic (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)