R424Q (p.Arg424Gln) variant of UBE3A (Ubiquitin-protein ligase E3A)
R424Q (p.Arg424Gln) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
R424Q (p.Arg424Gln) variant details
- p.Arg424Gln
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51664
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.