L13Q (p.Leu13Gln) variant of RYR1 (Ryanodine receptor 1)
L13Q (p.Leu13Gln) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- gnomAD 19-38433867-T-A
- Missense
- REVEL 0.78
- MetaLR 0.98
- MetaSVM 1.13
- CADD 29.20
- SIFT 0.00
- Population evidence available
- Literature evidence available