G12R (p.Gly12Arg) variant of PAX6 (Paired box protein Pax-6)
G12R (p.Gly12Arg) 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; Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes experimental measurements, published literature, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs1565246499
- ClinGen CA379959684
- ClinVar RCV000701816
- ClinVar RCV000984353
- Pathogenic
- Irido-corneo-trabecular dysgenesis; Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Irido-corneo-trabecular dysgenesis; Aniridia 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.429
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)