E18V (p.Glu18Val) variant of RYR1 (Ryanodine receptor 1)
E18V (p.Glu18Val) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E18V (p.Glu18Val) variant details
- p.Glu18Val
- gnomAD 19-38440752-A-T
- Missense
- REVEL 0.53
- MetaLR 0.85
- MetaSVM 0.84
- CADD 24.60
- PolyPhen-2 0.54
- SIFT 0.10
- Population evidence available
- Literature evidence available