L34L (p.Leu34Leu) variant of RYR1 (Ryanodine receptor 1)
L34L (p.Leu34Leu) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
L34L (p.Leu34Leu) variant details
- p.Leu34Leu
- gnomAD 19-38440801-C-T
- Synonymous
- CADD 5.93
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Literature evidence available