N50D (p.Asn50Asp) variant of PAX6 (Paired box protein Pax-6)

N50D (p.Asn50Asp) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes experimental measurements and structural context.

N50D (p.Asn50Asp) variant details