E41* (p.Glu41Ter) variant of RYR3 (Ryanodine receptor 3)
E41* (p.Glu41Ter) in RYR3 (Ryanodine receptor 3) is a protein-truncating change. The record also includes variant effect predictions and population frequency data.
E41* (p.Glu41Ter) variant details
- p.Glu41Ter
- TOPMed rs1383625599
- gnomAD rs1383625599
- Stop Gained
- CADD 41.00
- Most common in the African/African-American population (allele frequency 2.4e-05)