R337W (p.Arg337Trp) variant of UBE3A (Ubiquitin-protein ligase E3A)
R337W (p.Arg337Trp) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Angelman syndrome.
R337W (p.Arg337Trp) variant details
- p.Arg337Trp
- NCI-TCGA TCGA novel
- Likely pathogenic
- Angelman syndrome
- Missense
- ClinVar: Likely pathogenic (Angelman syndrome)
- UniProt: Likely pathogenic