L35I (p.Leu35Ile) variant of RYR2 (Ryanodine receptor 2)
L35I (p.Leu35Ile) in RYR2 (Ryanodine receptor 2) is a missense 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.
L35I (p.Leu35Ile) variant details
- p.Leu35Ile
- gnomAD 1-237270551-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.34
- MetaLR 0.65
- MetaSVM 0.06
- CADD 14.00
- PolyPhen-2 0.24
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available