I252N (p.Ile252Asn) variant of UBE3A (Ubiquitin-protein ligase E3A)
I252N (p.Ile252Asn) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact.
I252N (p.Ile252Asn) variant details
- p.Ile252Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- UniProt: Variant assessed as somatic; high impact.