F47L (p.Phe47Leu) variant of RYR1 (Ryanodine receptor 1)
F47L (p.Phe47Leu) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions and population frequency data.
F47L (p.Phe47Leu) variant details
- p.Phe47Leu
- gnomAD rs1311093214
- Missense
- REVEL 0.84
- MetaLR 0.94
- MetaSVM 1.07
- CADD 28.60
- PolyPhen-2 0.96
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)