G18R (p.Gly18Arg) variant of PAX6 (Paired box protein Pax-6)
G18R (p.Gly18Arg) 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 0.99 / 1. The record also includes experimental measurements, published literature, and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- rs886044289
- ClinGen CA379959645
- cosmic curated COSV10958
- ClinVar RCV001388985
- Pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis; PAX6-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.53
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)