I87N (p.Ile87Asn) variant of PAX6 (Paired box protein Pax-6)
I87N (p.Ile87Asn) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
I87N (p.Ile87Asn) variant details
- p.Ile87Asn
- rs864309686
- Likely pathogenic
- Missense
- EBI: ['likely-pathogenic']
- UniProt: Likely-pathogenic
- Structural context available