I11V (p.Ile11Val) variant of RYR2 (Ryanodine receptor 2)
I11V (p.Ile11Val) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I11V (p.Ile11Val) variant details
- p.Ile11Val
- gnomAD 1-237042552-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.34
- MetaLR 0.70
- MetaSVM 0.34
- CADD 18.40
- PolyPhen-2 0.25
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available