L36V (p.Leu36Val) variant of RYR1 (Ryanodine receptor 1)
L36V (p.Leu36Val) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions and population frequency data.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- TOPMed rs1412645396
- gnomAD rs1412645396
- Missense
- REVEL 0.65
- MetaLR 0.95
- MetaSVM 0.89
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)