C48S (p.Cys48Ser) variant of RYR3 (Ryanodine receptor 3)
C48S (p.Cys48Ser) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
C48S (p.Cys48Ser) variant details
- p.Cys48Ser
- gnomAD 15-33473509-T-A
- Missense
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.70
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Literature evidence available