T236S (p.Thr236Ser) variant of SCN2A (Nav1.2)
T236S (p.Thr236Ser) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy; West syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T236S (p.Thr236Ser) variant details
- p.Thr236Ser
- rs1235044536
- UniProt VAR 069999
- gnomAD rs1235044536
- Pathogenic
- Developmental and epileptic encephalopathy; West syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.96
- MetaSVM 1.11
- CADD 25.80
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy; West syndrome)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Most common in the HGDP:MBUTI population (allele frequency 0.21)
- Structural context available
- Cited in: Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. (PMID 23935176)
- Cited in: Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. (PMID 19783390)