R26G (p.Arg26Gly) variant of PAX6 (Paired box protein Pax-6)
R26G (p.Arg26Gly) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Coloboma, ocular, autosomal dominant; ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOM. 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.
R26G (p.Arg26Gly) variant details
- p.Arg26Gly
- rs121907913
- ClinGen CA116217
- ClinVar RCV000003627
- ClinVar RCV000003628
- Pathogenic/Likely pathogenic
- Coloboma, ocular, autosomal dominant; ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOM
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (Coloboma, ocular, autosomal dominant; ANTERIOR SEGMENT DYSGENESI)
- EBI: Pathogenic (in ASGD5)
- UniProt: Pathogenic (in ASGD5)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.0941
- Cited in: Congenital central corneal leukoma (Peters' anomaly). (PMID 1251879)
- Cited in: PAX6 and congenital eye malformations. (PMID 14561779)