Y60N (p.Tyr60Asn) variant of PAX6 (Paired box protein Pax-6)
Y60N (p.Tyr60Asn) 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.
Y60N (p.Tyr60Asn) variant details
- p.Tyr60Asn
- rs2496149378
- ClinGen CA379959026
- ClinVar RCV002292444
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available