E81D (p.Glu81Asp) variant of RYR3 (Ryanodine receptor 3)
E81D (p.Glu81Asp) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E81D (p.Glu81Asp) variant details
- p.Glu81Asp
- gnomAD 15-33503702-A-C
- Missense
- MetaLR 0.96
- MetaSVM 1.05
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Literature evidence available