V78L (p.Val78Leu) variant of PAX6 (Paired box protein Pax-6)
V78L (p.Val78Leu) 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 published literature and structural context.
V78L (p.Val78Leu) variant details
- p.Val78Leu
- rs2496142215
- ClinGen CA379958785
- ClinVar RCV003803071
- Uncertain significance
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- ClinVar: Uncertain significance (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)