E62D (p.Glu62Asp) variant of PAX6 (Paired box protein Pax-6)
E62D (p.Glu62Asp) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
E62D (p.Glu62Asp) variant details
- p.Glu62Asp
- TOPMed rs1280589297
- gnomAD rs1280589297
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available