C66S (p.Cys66Ser) variant of RYR3 (Ryanodine receptor 3)
C66S (p.Cys66Ser) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
C66S (p.Cys66Ser) variant details
- p.Cys66Ser
- TOPMed rs1478784274
- gnomAD rs1478784274
- Missense
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.60
- PolyPhen-2 0.53
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)