E6K (p.Glu6Lys) variant of RYR3 (Ryanodine receptor 3)
E6K (p.Glu6Lys) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- gnomAD 15-33311061-G-A
- Missense
- MetaLR 0.81
- MetaSVM 0.88
- CADD 23.80
- PolyPhen-2 0.04
- SIFT 0.12
- Population evidence available
- Literature evidence available