R51* (p.Arg51Ter) variant of BEST1 (Bestrophin-1)
R51* (p.Arg51Ter) in BEST1 (Bestrophin-1) is a protein-truncating change. The record also includes structural context.
R51* (p.Arg51Ter) variant details
- p.Arg51Ter
- cosmic curated COSV57120
- Stop Gained
- Structural context available