Q32H (p.Gln32His) variant of RYR2 (Ryanodine receptor 2)
Q32H (p.Gln32His) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q32H (p.Gln32His) variant details
- p.Gln32His
- gnomAD 1-237270544-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.31
- MetaLR 0.74
- MetaSVM -0.65
- CADD 4.72
- PolyPhen-2 0.01
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available