R16K (p.Arg16Lys) variant of RYR3 (Ryanodine receptor 3)
R16K (p.Arg16Lys) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
R16K (p.Arg16Lys) variant details
- p.Arg16Lys
- 1000Genomes rs574220880
- ExAC rs574220880
- TOPMed rs574220880
- gnomAD rs574220880
- Missense
- MetaLR 0.91
- MetaSVM 0.89
- CADD 25.10
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the HGDP:SINDHI population (allele frequency 0.023)