L23F (p.Leu23Phe) variant of RYR3 (Ryanodine receptor 3)
L23F (p.Leu23Phe) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
L23F (p.Leu23Phe) variant details
- p.Leu23Phe
- gnomAD rs1373943689
- Missense
- MetaLR 0.98
- MetaSVM 1.08
- CADD 26.00
- PolyPhen-2 0.95
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)