E192K (p.Glu192Lys) variant of UBE3A (Ubiquitin-protein ligase E3A)
E192K (p.Glu192Lys) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
E192K (p.Glu192Lys) variant details
- p.Glu192Lys
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51663
- TOPMed rs2080302503
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.