V53M (p.Val53Met) variant of PAX6 (Paired box protein Pax-6)
V53M (p.Val53Met) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Isolated optic nerve hypoplasia; Developmental disorder. The record also includes experimental measurements and structural context.
V53M (p.Val53Met) variant details
- p.Val53Met
- rs2496152990
- ClinGen CA379959086
- ClinVar RCV004534399
- Conflicting interpretations
- Isolated optic nerve hypoplasia; Developmental disorder
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Isolated optic nerve hypoplasia; Developmental disorder)
- EBI: Variant of uncertain significance (in AN1)
- UniProt: Uncertain significance (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score 0.16