Q23L (p.Gln23Leu) variant of RYR2 (Ryanodine receptor 2)
Q23L (p.Gln23Leu) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Q23L (p.Gln23Leu) variant details
- p.Gln23Leu
- gnomAD 1-237270516-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.71
- MetaLR 0.93
- MetaSVM 0.46
- CADD 24.70
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available