L48L (p.Leu48Leu) variant of RYR1 (Ryanodine receptor 1)
L48L (p.Leu48Leu) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
L48L (p.Leu48Leu) variant details
- p.Leu48Leu
- gnomAD 19-38440843-G-A
- Synonymous
- CADD 11.20
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Literature evidence available