I12M (p.Ile12Met) variant of RYR3 (Ryanodine receptor 3)
I12M (p.Ile12Met) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
I12M (p.Ile12Met) variant details
- p.Ile12Met
- TOPMed rs914652980
- gnomAD rs914652980
- Missense
- MetaLR 0.94
- MetaSVM 0.55
- CADD 23.90
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)