G51V (p.Gly51Val) variant of PAX6 (Paired box protein Pax-6)
G51V (p.Gly51Val) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Anterior segment dysgenesis; Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes experimental measurements and structural context.
G51V (p.Gly51Val) variant details
- p.Gly51Val
- rs587778874
- ClinGen CA145185
- ClinVar RCV000059340
- ClinVar RCV001200041
- Pathogenic/Likely pathogenic
- Anterior segment dysgenesis; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (Anterior segment dysgenesis; Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.189