K57K (p.Lys57Lys) variant of RYR3 (Ryanodine receptor 3)
K57K (p.Lys57Lys) in RYR3 (Ryanodine receptor 3) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
K57K (p.Lys57Lys) variant details
- p.Lys57Lys
- gnomAD 15-33473538-G-A
- Splice Region
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available