P39A (p.Pro39Ala) variant of PAX6 (Paired box protein Pax-6)
P39A (p.Pro39Ala) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Aniridia 1; Irido-corneo-trabecular dysgenesis. The record also includes experimental measurements and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- cosmic curated COSV53796
- Uncertain significance
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- ClinVar: Uncertain significance (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- UniProt: Uncertain significance
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.382