C23C (p.Cys23Cys) variant of RYR1 (Ryanodine receptor 1)
C23C (p.Cys23Cys) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
C23C (p.Cys23Cys) variant details
- p.Cys23Cys
- rs2145320292
- gnomAD 19-38440768-C-T
- Synonymous
- CADD 11.80
- Population evidence available
- Literature evidence available