G72C (p.Gly72Cys) variant of PAX6 (Paired box protein Pax-6)
G72C (p.Gly72Cys) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Aniridia 1; Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes population frequency data, published literature, and structural context.
G72C (p.Gly72Cys) variant details
- p.Gly72Cys
- rs759557055
- ClinGen CA379958869
- ClinVar RCV000984387
- ClinVar RCV002549623
- Pathogenic/Likely pathogenic
- not provided; Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (not provided; Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)