R500H (p.Arg500His) variant of UBE3A (Ubiquitin-protein ligase E3A)
R500H (p.Arg500His) 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.
R500H (p.Arg500His) variant details
- p.Arg500His
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51668
- Uncertain significance
- in AS
- Missense
- EBI: uncertain significance (in AS)
- UniProt: Uncertain significance (in AS)