S4I (p.Ser4Ile) variant of PAX6 (Paired box protein Pax-6)
S4I (p.Ser4Ile) in PAX6 (Paired box protein Pax-6) is a missense change. The record also includes experimental measurements and structural context.
S4I (p.Ser4Ile) variant details
- p.Ser4Ile
- cosmic curated COSV53793
- Missense
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.124