Q12K (p.Gln12Lys) variant of RYR2 (Ryanodine receptor 2)
Q12K (p.Gln12Lys) 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.
Q12K (p.Gln12Lys) variant details
- p.Gln12Lys
- gnomAD 1-237042555-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.53
- MetaLR 0.86
- MetaSVM 0.88
- CADD 23.50
- PolyPhen-2 0.26
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available