G58R (p.Gly58Arg) variant of SCN1A (P35498)
G58R (p.Gly58Arg) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- rs1553560785
- ClinGen CA349242943
- ClinVar RCV006466818
- Ensembl rs1553560785
- Pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.88
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available