G13R (p.Gly13Arg) variant of PAX6 (Paired box protein Pax-6)
G13R (p.Gly13Arg) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar 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 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- gnomAD rs1205816319
- Pathogenic
- Irido-corneo-trabecular dysgenesis; Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Irido-corneo-trabecular dysgenesis; Aniridia 1)
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -1.03