Q33H (p.Gln33His) variant of RYR2 (Ryanodine receptor 2)
Q33H (p.Gln33His) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Q33H (p.Gln33His) variant details
- p.Gln33His
- gnomAD 1-237270547-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.63
- MetaLR 0.79
- MetaSVM 0.62
- CADD 23.20
- PolyPhen-2 0.96
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available