V53L (p.Val53Leu) variant of PAX6 (Paired box protein Pax-6)
V53L (p.Val53Leu) 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.
V53L (p.Val53Leu) variant details
- p.Val53Leu
- rs2496152990
- ClinGen CA379959087
- ClinVar RCV003037379
- UniProt VAR 008699
- Likely pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- ClinVar: Likely pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score 0.16
- Cited in: Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. (PMID 10234503)
- Cited in: Missense mutations in the DNA-binding region and termination codon in PAX6. (PMID 12552561)