G73D (p.Gly73Asp) variant of PAX6 (Paired box protein Pax-6)
G73D (p.Gly73Asp) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Irido-corneo-trabecular dysgenesis; Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G73D (p.Gly73Asp) variant details
- p.Gly73Asp
- rs2135097306
- ClinGen CA379958851
- ClinVar RCV002245510
- ClinVar RCV003093967
- Conflicting interpretations
- Irido-corneo-trabecular dysgenesis; Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Conflicting classifications of pathogenicity (Irido-corneo-trabecular dysgenesis; Aniridia 1)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- Cited in: Missense mutations in the DNA-binding region and termination codon in PAX6. (PMID 12552561)
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)