E31D (p.Glu31Asp) variant of PAX6 (Paired box protein Pax-6)
E31D (p.Glu31Asp) in PAX6 (Paired box protein Pax-6) is a missense change. The record also includes experimental measurements and structural context.
E31D (p.Glu31Asp) variant details
- p.Glu31Asp
- ExAC rs778947003
- TOPMed rs778947003
- gnomAD rs778947003
- Missense
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.719