R44R (p.Arg44Arg) variant of RYR1 (Ryanodine receptor 1)
R44R (p.Arg44Arg) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
R44R (p.Arg44Arg) variant details
- p.Arg44Arg
- gnomAD 19-38440831-C-T
- Synonymous
- CADD 10.90
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Literature evidence available