R38P (p.Arg38Pro) variant of PAX6 (Paired box protein Pax-6)
R38P (p.Arg38Pro) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aniridia 1; Irido-corneo-trabecular dysgenesis. The record also includes experimental measurements, published literature, and structural context.
R38P (p.Arg38Pro) variant details
- p.Arg38Pro
- rs2496291260
- ClinGen CA379959517
- ClinVar RCV002632616
- Pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- ClinVar: Pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic (in FVH1)
- UniProt: Pathogenic (in FVH1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.621
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)