L45L (p.Leu45Leu) variant of RYR1 (Ryanodine receptor 1)
L45L (p.Leu45Leu) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
L45L (p.Leu45Leu) variant details
- p.Leu45Leu
- rs1972639888
- gnomAD 19-38440832-C-T
- Synonymous
- CADD 12.10
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Literature evidence available