Q12Q (p.Gln12Gln) variant of RYR2 (Ryanodine receptor 2)
Q12Q (p.Gln12Gln) in RYR2 (Ryanodine receptor 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q12Q (p.Gln12Gln) variant details
- p.Gln12Gln
- gnomAD 1-237042557-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 11.50
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available