L14M (p.Leu14Met) variant of RYR2 (Ryanodine receptor 2)
L14M (p.Leu14Met) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- gnomAD 1-237042561-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.66
- MetaLR 0.95
- MetaSVM 0.99
- CADD 21.30
- PolyPhen-2 0.06
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available