G36E (p.Gly36Glu) variant of PAX6 (Paired box protein Pax-6)
G36E (p.Gly36Glu) 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. 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.
G36E (p.Gly36Glu) variant details
- p.Gly36Glu
- rs1592563636
- ClinGen CA379959528
- ClinVar RCV000984362
- Ensembl rs1592563636
- Likely pathogenic
- Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Aniridia 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.273
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)