Q33R (p.Gln33Arg) variant of RYR2 (Ryanodine receptor 2)
Q33R (p.Gln33Arg) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- gnomAD 1-237270546-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.50
- MetaLR 0.64
- MetaSVM 0.29
- CADD 18.00
- PolyPhen-2 0.08
- SIFT 0.77
- Population evidence available
- Structural context available
- Literature evidence available