M82C (p.Met82Cys) variant of RYR3 (Ryanodine receptor 3)
M82C (p.Met82Cys) in RYR3 (Ryanodine receptor 3) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
M82C (p.Met82Cys) variant details
- p.Met82Cys
- gnomAD 15-33503700-GA-G
- Frameshift
- CADD 29.40
- Population evidence available
- Literature evidence available