D60I (p.Asp60Ile) variant of RYR1 (Ryanodine receptor 1)
D60I (p.Asp60Ile) in RYR1 (Ryanodine receptor 1) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
D60I (p.Asp60Ile) variant details
- p.Asp60Ile
- rs756326114
- gnomAD 19-38442354-GC-G
- Frameshift
- CADD 29.30
- Population evidence available
- Literature evidence available