L21M (p.Leu21Met) variant of RYR1 (Ryanodine receptor 1)
L21M (p.Leu21Met) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
L21M (p.Leu21Met) variant details
- p.Leu21Met
- gnomAD 19-38440760-C-A
- Missense
- REVEL 0.77
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.07
- Population evidence available
- Literature evidence available