Q23K (p.Gln23Lys) variant of RYR2 (Ryanodine receptor 2)
Q23K (p.Gln23Lys) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Q23K (p.Gln23Lys) variant details
- p.Gln23Lys
- gnomAD 1-237270515-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.75
- MetaLR 0.92
- MetaSVM 0.99
- CADD 25.10
- PolyPhen-2 0.48
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available