R240K (p.Arg240Lys) variant of UBE3A (Ubiquitin-protein ligase E3A)
R240K (p.Arg240Lys) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
R240K (p.Arg240Lys) variant details
- p.Arg240Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.