Q12E (p.Gln12Glu) variant of RYR2 (Ryanodine receptor 2)
Q12E (p.Gln12Glu) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Q12E (p.Gln12Glu) variant details
- p.Gln12Glu
- gnomAD 1-237042555-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.56
- MetaLR 0.89
- MetaSVM 0.96
- CADD 23.30
- PolyPhen-2 0.34
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available