R59S (p.Arg59Ser) variant of PAX6 (Paired box protein Pax-6)
R59S (p.Arg59Ser) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
R59S (p.Arg59Ser) variant details
- p.Arg59Ser
- rs1953969921
- ClinGen CA379959028
- ClinVar RCV002288116
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available