G269R (p.Gly269Arg) variant of SCN8A (Nav1.6)
G269R (p.Gly269Arg) 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 0.98 / 1. The record also includes published literature and structural context.
G269R (p.Gly269Arg) variant details
- p.Gly269Arg
- rs1555218644
- ClinGen CA385226558
- NCI-TCGA Cosmic COSV6198
- cosmic curated COSV61981
- Likely pathogenic
- Autosomal recessive inheritance; Global developmental delay; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- 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)