T1212P (p.Thr1212Pro) variant of SCN2A (Nav1.2)
T1212P (p.Thr1212Pro) 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 0.86 / 1. The record also includes published literature and structural context.
T1212P (p.Thr1212Pro) variant details
- p.Thr1212Pro
- rs1700783234
- ClinGen CA349026266
- ClinVar RCV001041043
- ClinVar RCV004702594
- Likely pathogenic
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.85
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)