I123K (p.Ile123Lys) variant of PAX6 (Paired box protein Pax-6)
I123K (p.Ile123Lys) 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 Congenital aniridia. The record also includes published literature and structural context.
I123K (p.Ile123Lys) variant details
- p.Ile123Lys
- rs2496003605
- ClinGen CA379958399
- ClinVar RCV005420429
- Pathogenic
- Congenital aniridia
- Missense
- ClinVar: Pathogenic (Congenital aniridia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)