Q12P (p.Gln12Pro) variant of RYR2 (Ryanodine receptor 2)
Q12P (p.Gln12Pro) 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.
Q12P (p.Gln12Pro) variant details
- p.Gln12Pro
- gnomAD 1-237042556-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.74
- MetaLR 0.87
- MetaSVM 0.77
- CADD 25.20
- PolyPhen-2 0.46
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available