V69L (p.Val69Leu) variant of RYR3 (Ryanodine receptor 3)
V69L (p.Val69Leu) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
V69L (p.Val69Leu) variant details
- p.Val69Leu
- ExAC rs763070160
- TOPMed rs763070160
- gnomAD rs763070160
- Missense
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.20
- PolyPhen-2 0.52
- SIFT 0.01
- Most common in the South Asian population (allele frequency 3.5e-05)