E31K (p.Glu31Lys) variant of RYR2 (Ryanodine receptor 2)
E31K (p.Glu31Lys) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- gnomAD 1-237270539-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.72
- MetaLR 0.89
- MetaSVM 0.92
- CADD 28.80
- PolyPhen-2 0.61
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available