C23R (p.Cys23Arg) variant of RYR1 (Ryanodine receptor 1)
C23R (p.Cys23Arg) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
C23R (p.Cys23Arg) variant details
- p.Cys23Arg
- gnomAD 19-38440766-T-C
- Missense
- REVEL 0.93
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available