A37P (p.Ala37Pro) variant of PAX6 (Paired box protein Pax-6)
A37P (p.Ala37Pro) 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.
A37P (p.Ala37Pro) variant details
- p.Ala37Pro
- rs2496292641
- ClinGen CA379959525
- ClinVar RCV003813325
- 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
- PAX6 Homeobox domain domainome 1.0: score -0.459
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)