T105N (p.Thr105Asn) variant of SCN1A (P35498)
T105N (p.Thr105Asn) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T105N (p.Thr105Asn) variant details
- p.Thr105Asn
- rs796053089
- ClinGen CA59804349
- ClinVar RCV002463978
- ClinVar RCV004721075
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 0.21
- MetaLR 0.94
- MetaSVM 1.10
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)