G409R (p.Gly409Arg) variant of PAX6 (Paired box protein Pax-6)
G409R (p.Gly409Arg) 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 Aniridia 1; Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G409R (p.Gly409Arg) variant details
- p.Gly409Arg
- rs1259731819
- NCI-TCGA Cosmic COSV5379
- cosmic curated COSV53795
- gnomAD rs1259731819
- Pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.93
- MetaLR 0.92
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.38
- ClinVar: Pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- UniProt: Pathogenic
- Population evidence available
- Structural context available