R506I (p.Arg506Ile) variant of UBE3A (Ubiquitin-protein ligase E3A)
R506I (p.Arg506Ile) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
R506I (p.Arg506Ile) variant details
- p.Arg506Ile
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51664
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.