D60R (p.Asp60Arg) variant of RYR1 (Ryanodine receptor 1)
D60R (p.Asp60Arg) in RYR1 (Ryanodine receptor 1) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
D60R (p.Asp60Arg) variant details
- p.Asp60Arg
- rs756326114
- gnomAD 19-38442354-G-GC
- Frameshift
- CADD 32.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Literature evidence available