G13D (p.Gly13Asp) variant of SCN4A (Nav1.4)
G13D (p.Gly13Asp) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- rs1477585952
- ClinGen CA400640587
- ClinVar RCV003136486
- gnomAD rs1477585952
- Uncertain significance
- not provided
- Missense
- MutPred 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available