A99T (p.Ala99Thr) variant of PAX6 (Paired box protein Pax-6)
A99T (p.Ala99Thr) 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 Aniridia 1; Irido-corneo-trabecular dysgenesis. The record also includes published literature and structural context.
A99T (p.Ala99Thr) variant details
- p.Ala99Thr
- rs2496129091
- ClinGen CA379958570
- ClinVar RCV002806654
- Likely pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- ClinVar: Likely pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)