S155G (p.Ser155Gly) variant of PAX6 (Paired box protein Pax-6)
S155G (p.Ser155Gly) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Aniridia 1. The record also includes structural context.
S155G (p.Ser155Gly) variant details
- p.Ser155Gly
- cosmic curated COSV99570
- Likely pathogenic
- Aniridia 1
- Missense
- ClinVar: Likely pathogenic (Aniridia 1)
- UniProt: Likely pathogenic
- Structural context available