L48P (p.Leu48Pro) variant of RYR1 (Ryanodine receptor 1)
L48P (p.Leu48Pro) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions and population frequency data.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- gnomAD rs1234313279
- Missense
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)