E71K (p.Glu71Lys) variant of RYR3 (Ryanodine receptor 3)
E71K (p.Glu71Lys) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
E71K (p.Glu71Lys) variant details
- p.Glu71Lys
- TOPMed rs1485792606
- gnomAD rs1485792606
- Missense
- MetaLR 0.96
- MetaSVM 1.06
- CADD 26.00
- PolyPhen-2 0.81
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)