E9D (p.Glu9Asp) variant of RYR1 (Ryanodine receptor 1)
E9D (p.Glu9Asp) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- gnomAD 19-38433856-G-C
- Missense
- REVEL 0.31
- MetaLR 0.73
- MetaSVM 0.05
- CADD 12.40
- PolyPhen-2 0.07
- SIFT 1.00
- Population evidence available
- Literature evidence available