L22P (p.Leu22Pro) variant of RYR2 (Ryanodine receptor 2)
L22P (p.Leu22Pro) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- gnomAD 1-237270513-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.05
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available