I29L (p.Ile29Leu) variant of RYR3 (Ryanodine receptor 3)
I29L (p.Ile29Leu) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
I29L (p.Ile29Leu) variant details
- p.Ile29Leu
- TOPMed rs1008629390
- gnomAD rs1008629390
- Missense
- MetaLR 0.87
- MetaSVM 0.26
- CADD 0.08
- PolyPhen-2 0.36
- SIFT 0.31
- Most common in the REMAINING population (allele frequency 0.00048)