Q211R (p.Gln211Arg) variant of PAX6 (Paired box protein Pax-6)
Q211R (p.Gln211Arg) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aniridia 1; Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
Q211R (p.Gln211Arg) variant details
- p.Gln211Arg
- rs1592433640
- ClinGen CA379956918
- ClinVar RCV000803537
- Ensembl rs1592433640
- Likely pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.98
- MetaLR 0.60
- MetaSVM 0.71
- PolyPhen-2 0.94
- SIFT 0.48
- EVE 0.27
- ClinVar: Likely pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)