R16S (p.Arg16Ser) variant of RYR3 (Ryanodine receptor 3)
R16S (p.Arg16Ser) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
R16S (p.Arg16Ser) variant details
- p.Arg16Ser
- TOPMed rs1432081207
- gnomAD rs1432081207
- Missense
- MetaLR 0.89
- MetaSVM 0.70
- CADD 31.00
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)