S372L (p.Ser372Leu) variant of UBE3A (Ubiquitin-protein ligase E3A)
S372L (p.Ser372Leu) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
S372L (p.Ser372Leu) variant details
- p.Ser372Leu
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51664
- TOPMed rs2080233700
- gnomAD rs2080233700
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.