N56K (p.Asn56Lys) variant of RYR1 (Ryanodine receptor 1)
N56K (p.Asn56Lys) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
N56K (p.Asn56Lys) variant details
- p.Asn56Lys
- gnomAD 19-38442351-T-A
- Missense
- REVEL 0.57
- MetaLR 0.92
- MetaSVM 0.90
- CADD 24.50
- PolyPhen-2 0.86
- SIFT 0.13
- Population evidence available
- Literature evidence available