V53G (p.Val53Gly) variant of PAX6 (Paired box protein Pax-6)
V53G (p.Val53Gly) 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. The record also includes experimental measurements, published literature, and structural context.
V53G (p.Val53Gly) variant details
- p.Val53Gly
- rs1592546273
- ClinGen CA379959082
- ClinVar RCV000984378
- Ensembl rs1592546273
- Pathogenic
- Aniridia 1
- Missense
- ClinVar: Pathogenic (Aniridia 1)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score 0.16
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)