P52R (p.Pro52Arg) variant of RYR3 (Ryanodine receptor 3)
P52R (p.Pro52Arg) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- gnomAD rs1257308154
- Missense
- MetaLR 0.95
- MetaSVM 1.04
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the South Asian population (allele frequency 3.5e-05)