E9K (p.Glu9Lys) variant of RYR3 (Ryanodine receptor 3)
E9K (p.Glu9Lys) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- gnomAD 15-33311070-G-A
- Missense
- MetaLR 0.92
- MetaSVM 1.14
- CADD 26.80
- PolyPhen-2 0.10
- SIFT 0.04
- Population evidence available
- Literature evidence available