N56N (p.Asn56Asn) variant of RYR1 (Ryanodine receptor 1)
N56N (p.Asn56Asn) in RYR1 (Ryanodine receptor 1) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
N56N (p.Asn56Asn) variant details
- p.Asn56Asn
- rs1266378538
- gnomAD 19-38442351-T-C
- Splice Region
- CADD 12.90
- Population evidence available
- Literature evidence available