L35L (p.Leu35Leu) variant of RYR2 (Ryanodine receptor 2)
L35L (p.Leu35Leu) in RYR2 (Ryanodine receptor 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L35L (p.Leu35Leu) variant details
- p.Leu35Leu
- gnomAD 1-237270551-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 8.13
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available