G908R (p.Gly908Arg) variant of SCN1A (Nav1.1)
G908R (p.Gly908Arg) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
G908R (p.Gly908Arg) variant details
- p.Gly908Arg
- rs796052984
- ClinGen CA317307
- ClinVar RCV000188895
- Ensembl rs796052984
- Likely pathogenic
- Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Severe myoclonic epilepsy in infancy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available