G12S (p.Gly12Ser) variant of PAX6 (Paired box protein Pax-6)
G12S (p.Gly12Ser) in PAX6 (Paired box protein Pax-6) is a missense change. The record also includes experimental measurements and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- cosmic curated COSV53793
- Missense
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.429