I42L (p.Ile42Leu) variant of PAX6 (Paired box protein Pax-6)
I42L (p.Ile42Leu) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aniridia 1; Irido-corneo-trabecular dysgenesis. The record also includes experimental measurements, published literature, and structural context.
I42L (p.Ile42Leu) variant details
- p.Ile42Leu
- rs2496286886
- ClinGen CA379959494
- ClinVar RCV003804916
- Uncertain significance
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- ClinVar: Uncertain significance (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Variant of uncertain significance (in AN1)
- UniProt: Uncertain significance (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.889
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)