G72R (p.Gly72Arg) variant of PAX6 (Paired box protein Pax-6)
G72R (p.Gly72Arg) 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 Intellectual disability; Foveal hypoplasia 1; Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G72R (p.Gly72Arg) variant details
- p.Gly72Arg
- rs759557055
- ClinGen CA379958867
- ClinVar RCV000984386
- ClinVar RCV004669181
- Conflicting interpretations
- Intellectual disability; Foveal hypoplasia 1; Aniridia 1
- 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: Conflicting classifications of pathogenicity (Intellectual disability; Foveal hypoplasia 1; Aniridia 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)