E18D (p.Glu18Asp) variant of RYR3 (Ryanodine receptor 3)
E18D (p.Glu18Asp) in RYR3 (Ryanodine receptor 3) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- gnomAD 15-33473420-A-ACC
- Frameshift
- CADD 28.40
- Population evidence available
- Literature evidence available