V21I (p.Val21Ile) variant of RYR2 (Ryanodine receptor 2)
V21I (p.Val21Ile) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V21I (p.Val21Ile) variant details
- p.Val21Ile
- gnomAD 1-237270509-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.64
- MetaLR 0.28
- MetaSVM -0.62
- CADD 25.80
- PolyPhen-2 0.68
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available