D593N (p.Asp593Asn) variant of UBE3A (Ubiquitin-protein ligase E3A)
D593N (p.Asp593Asn) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
D593N (p.Asp593Asn) variant details
- p.Asp593Asn
- NCI-TCGA Cosmic COSV9921
- cosmic curated COSV99216
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.