D62E (p.Asp62Glu) variant of RYR3 (Ryanodine receptor 3)
D62E (p.Asp62Glu) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
D62E (p.Asp62Glu) variant details
- p.Asp62Glu
- TOPMed rs1461557248
- gnomAD rs1461557248
- Missense
- MetaLR 0.93
- MetaSVM 1.00
- CADD 24.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)