L22M (p.Leu22Met) variant of RYR2 (Ryanodine receptor 2)
L22M (p.Leu22Met) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L22M (p.Leu22Met) variant details
- p.Leu22Met
- gnomAD 1-237270512-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.75
- MetaLR 0.97
- MetaSVM 1.04
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available