K57R (p.Lys57Arg) variant of RYR3 (Ryanodine receptor 3)
K57R (p.Lys57Arg) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
K57R (p.Lys57Arg) variant details
- p.Lys57Arg
- gnomAD 15-33473537-A-G
- Missense
- MetaLR 0.93
- MetaSVM 1.01
- CADD 31.00
- PolyPhen-2 0.85
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available