G51E (p.Gly51Glu) variant of PAX6 (Paired box protein Pax-6)
G51E (p.Gly51Glu) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aniridia 1; Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes experimental measurements, published literature, and structural context.
G51E (p.Gly51Glu) variant details
- p.Gly51Glu
- rs587778874
- ClinGen CA379959103
- ClinVar RCV003809859
- Uncertain significance
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Uncertain significance (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.189
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)