L50L (p.Leu50Leu) variant of RYR3 (Ryanodine receptor 3)
L50L (p.Leu50Leu) in RYR3 (Ryanodine receptor 3) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- gnomAD 15-33473515-T-C
- Synonymous
- CADD 8.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available