Q12R (p.Gln12Arg) variant of RYR2 (Ryanodine receptor 2)
Q12R (p.Gln12Arg) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q12R (p.Gln12Arg) variant details
- p.Gln12Arg
- gnomAD 1-237042556-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.51
- MetaLR 0.86
- MetaSVM 0.71
- CADD 25.00
- PolyPhen-2 0.46
- SIFT 0.10
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available