Q32Q (p.Gln32Gln) variant of RYR2 (Ryanodine receptor 2)
Q32Q (p.Gln32Gln) in RYR2 (Ryanodine receptor 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
Q32Q (p.Gln32Gln) variant details
- p.Gln32Gln
- rs1057524453
- gnomAD 1-237270544-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.106
- CADD 3.59
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available