L14L (p.Leu14Leu) variant of RYR2 (Ryanodine receptor 2)
L14L (p.Leu14Leu) in RYR2 (Ryanodine receptor 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- rs878854156
- gnomAD 1-237042561-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 11.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available