L13L (p.Leu13Leu) variant of RYR1 (Ryanodine receptor 1)
L13L (p.Leu13Leu) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- gnomAD 19-38433868-G-A
- Synonymous
- CADD 11.90
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Literature evidence available