Y48* (p.Tyr48Ter) variant of GABRB3 (P28472)
Y48* (p.Tyr48Ter) in GABRB3 (P28472) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
Y48* (p.Tyr48Ter) variant details
- p.Tyr48Ter
- Ensembl rs868652432
- Likely benign
- Stop Gained
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available