E192A (p.Glu192Ala) variant of UBE3A (Ubiquitin-protein ligase E3A)
E192A (p.Glu192Ala) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
E192A (p.Glu192Ala) variant details
- p.Glu192Ala
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51667
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.