G395R (p.Gly395Arg) variant of PAX6 (Paired box protein Pax-6)
G395R (p.Gly395Arg) 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 Aniridia 1; Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
G395R (p.Gly395Arg) variant details
- p.Gly395Arg
- rs1131692318
- ClinGen CA379966974
- ClinVar RCV001975226
- Ensembl rs1131692318
- Pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.89
- PolyPhen-2 0.89
- SIFT 0.00
- MutPred 0.49
- ClinVar: Pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- Cited in: A new PAX6 mutation in familial aniridia. (PMID 7666404)
- Cited in: Mutation spectrum of PAX6 in Chinese patients with aniridia. (PMID 21850189)