R62L (p.Arg62Leu) variant of UBE3A (Ubiquitin-protein ligase E3A)
R62L (p.Arg62Leu) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
R62L (p.Arg62Leu) variant details
- p.Arg62Leu
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51660
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs587784511)
- Structural context available