L35Q (p.Leu35Gln) variant of RYR2 (Ryanodine receptor 2)
L35Q (p.Leu35Gln) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
L35Q (p.Leu35Gln) variant details
- p.Leu35Gln
- TOPMed rs1336134919
- gnomAD rs1336134919
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.81
- MetaLR 0.80
- MetaSVM 0.77
- CADD 25.80
- PolyPhen-2 0.92
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available