C23G (p.Cys23Gly) variant of RYR1 (Ryanodine receptor 1)
C23G (p.Cys23Gly) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
C23G (p.Cys23Gly) variant details
- p.Cys23Gly
- gnomAD 19-38440766-T-G
- Missense
- REVEL 0.90
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available