E8K (p.Glu8Lys) variant of RYR2 (Ryanodine receptor 2)
E8K (p.Glu8Lys) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- gnomAD 1-237042543-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.46
- MetaLR 0.79
- MetaSVM 0.42
- CADD 23.70
- PolyPhen-2 0.34
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available