R26W (p.Arg26Trp) variant of PAX6 (Paired box protein Pax-6)
R26W (p.Arg26Trp) 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 Irido-corneo-trabecular dysgenesis; 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.
R26W (p.Arg26Trp) variant details
- p.Arg26Trp
- rs121907913
- ClinGen CA379959598
- ClinVar RCV000984359
- ClinVar RCV002550582
- Pathogenic
- Irido-corneo-trabecular dysgenesis; Aniridia 1
- 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 (Irido-corneo-trabecular dysgenesis; Aniridia 1)
- EBI: Pathogenic (in ASGD5)
- UniProt: Pathogenic (in ASGD5)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.0941
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)