E55F (p.Glu55Phe) variant of RYR3 (Ryanodine receptor 3)
E55F (p.Glu55Phe) in RYR3 (Ryanodine receptor 3) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E55F (p.Glu55Phe) variant details
- p.Glu55Phe
- gnomAD 15-33473528-C-CTT
- Frameshift
- CADD 32.00
- Population evidence available
- Literature evidence available