Q12L (p.Gln12Leu) variant of RYR2 (Ryanodine receptor 2)
Q12L (p.Gln12Leu) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q12L (p.Gln12Leu) variant details
- p.Gln12Leu
- gnomAD 1-237042556-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.49
- MetaLR 0.82
- MetaSVM 0.56
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available