G13A (p.Gly13Ala) variant of PAX6 (Paired box protein Pax-6)
G13A (p.Gly13Ala) 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 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.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- rs1954548195
- ClinGen CA379959675
- ClinVar RCV001269464
- Ensembl rs1954548195
- Pathogenic
- Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -1.03