R500C (p.Arg500Cys) variant of UBE3A (Ubiquitin-protein ligase E3A)
R500C (p.Arg500Cys) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in AS.
R500C (p.Arg500Cys) variant details
- p.Arg500Cys
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51661
- Uncertain significance
- in AS
- Missense
- EBI: uncertain significance (in AS)
- UniProt: Uncertain significance (in AS)