L28L (p.Leu28Leu) variant of RYR1 (Ryanodine receptor 1)
L28L (p.Leu28Leu) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
L28L (p.Leu28Leu) variant details
- p.Leu28Leu
- rs781676755
- gnomAD 19-38440783-C-T
- Synonymous
- CADD 10.70
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Literature evidence available