E10K (p.Glu10Lys) variant of RYR2 (Ryanodine receptor 2)
E10K (p.Glu10Lys) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- gnomAD 1-237042549-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.60
- MetaLR 0.89
- MetaSVM 0.79
- CADD 24.30
- PolyPhen-2 0.47
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available