E431K (p.Glu431Lys) variant of UBE3A (Ubiquitin-protein ligase E3A)
E431K (p.Glu431Lys) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
E431K (p.Glu431Lys) variant details
- p.Glu431Lys
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51662
- TOPMed rs2080204750
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.