C52W (p.Cys52Trp) variant of PAX6 (Paired box protein Pax-6)
C52W (p.Cys52Trp) 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 experimental measurements, published literature, and structural context.
C52W (p.Cys52Trp) variant details
- p.Cys52Trp
- rs1283307441
- ClinGen CA379959088
- ClinVar RCV002856977
- Likely pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- ClinVar: Likely pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Likely pathogenic (in AN1)
- UniProt: Likely pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.315
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)