L14Q (p.Leu14Gln) variant of RYR2 (Ryanodine receptor 2)
L14Q (p.Leu14Gln) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- gnomAD 1-237042562-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.92
- MetaLR 0.97
- MetaSVM 1.10
- CADD 26.50
- PolyPhen-2 0.69
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available