P235T (p.Pro235Thr) variant of PAX6 (Paired box protein Pax-6)
P235T (p.Pro235Thr) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Irido-corneo-trabecular dysgenesis. The record also includes structural context.
P235T (p.Pro235Thr) variant details
- p.Pro235Thr
- rs2495176679
- ClinGen CA379956736
- ClinVar RCV003491359
- Likely pathogenic
- Irido-corneo-trabecular dysgenesis
- Missense
- ClinVar: Likely pathogenic (Irido-corneo-trabecular dysgenesis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available