R14R (p.Arg14Arg) variant of RYR1 (Ryanodine receptor 1)
R14R (p.Arg14Arg) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
R14R (p.Arg14Arg) variant details
- p.Arg14Arg
- rs200665559
- gnomAD 19-38433869-C-A
- Synonymous
- CADD 13.10
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Literature evidence available