E142K (p.Glu142Lys) variant of UBE3A (Ubiquitin-protein ligase E3A)
E142K (p.Glu142Lys) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of UBE3A-related disorder.
E142K (p.Glu142Lys) variant details
- p.Glu142Lys
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51669
- Uncertain significance
- UBE3A-related disorder
- Missense
- ClinVar: Uncertain significance (UBE3A-related disorder)
- UniProt: Uncertain significance