I25T (p.Ile25Thr) variant of SCN2A (Q99250)
I25T (p.Ile25Thr) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I25T (p.Ile25Thr) variant details
- p.Ile25Thr
- rs1366486532
- ClinGen CA349009864
- ClinVar RCV001961336
- TOPMed rs1366486532
- Uncertain significance
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.41
- MetaLR 0.96
- MetaSVM 1.09
- CADD 25.80
- ClinVar: Uncertain significance (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.043)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)