E30* (p.Glu30Ter) variant of RYR1 (Ryanodine receptor 1)
E30* (p.Glu30Ter) in RYR1 (Ryanodine receptor 1) is a protein-truncating change. The record also includes variant effect predictions and population frequency data.
E30* (p.Glu30Ter) variant details
- p.Glu30Ter
- ExAC rs746378173
- gnomAD rs746378173
- Stop Gained
- CADD 39.00
- Population evidence available