T1360N (p.Thr1360Asn) variant of SCN8A (Nav1.6)
T1360N (p.Thr1360Asn) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive inheritance; Global developmental delay; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
T1360N (p.Thr1360Asn) variant details
- p.Thr1360Asn
- rs2138904306
- ClinGen CA384905457
- ClinVar RCV001785304
- ClinVar RCV003992553
- Likely pathogenic
- Autosomal recessive inheritance; Global developmental delay; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive inheritance; Global developmental delay; Sei)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an… (PMID 34211152)