S49P (p.Ser49Pro) variant of PAX6 (Paired box protein Pax-6)
S49P (p.Ser49Pro) in PAX6 (Paired box protein Pax-6) is a missense change. The record also includes experimental measurements and structural context.
S49P (p.Ser49Pro) variant details
- p.Ser49Pro
- cosmic curated COSV53791
- Missense
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.449