V78E (p.Val78Glu) variant of PAX6 (Paired box protein Pax-6)
V78E (p.Val78Glu) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aniridia 1; Irido-corneo-trabecular dysgenesis; PAX6-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
V78E (p.Val78Glu) variant details
- p.Val78Glu
- rs886042622
- ClinGen CA379958779
- ClinVar RCV001323142
- ClinVar RCV005232267
- Pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis; PAX6-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis; PAX6-related dis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)