R1638P (p.Arg1638Pro) variant of SCN2A (Nav1.2)
R1638P (p.Arg1638Pro) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SCN2A-related disorder; Seizures, benign familial infantile, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
R1638P (p.Arg1638Pro) variant details
- p.Arg1638Pro
- rs2468157547
- ClinGen CA2740095790
- ClinVar RCV003807831
- Uncertain significance
- SCN2A-related disorder; Seizures, benign familial infantile, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)