S54R (p.Ser54Arg) variant of PAX6 (Paired box protein Pax-6)
S54R (p.Ser54Arg) 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 Coloboma, ocular, autosomal dominant. The record also includes experimental measurements, published literature, and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- rs2496152181
- ClinGen CA379959081
- ClinVar RCV003883476
- Pathogenic
- Coloboma, ocular, autosomal dominant
- Missense
- ClinVar: Pathogenic (Coloboma, ocular, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.231
- Cited in: Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on… (PMID 31700164)