Q23H (p.Gln23His) variant of RYR2 (Ryanodine receptor 2)
Q23H (p.Gln23His) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Q23H (p.Gln23His) variant details
- p.Gln23His
- gnomAD 1-237270517-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.84
- MetaLR 0.91
- MetaSVM 0.61
- CADD 25.30
- PolyPhen-2 0.88
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available