I11F (p.Ile11Phe) variant of RYR2 (Ryanodine receptor 2)
I11F (p.Ile11Phe) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
I11F (p.Ile11Phe) variant details
- p.Ile11Phe
- Ensembl rs1572423240
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.75
- MetaLR 0.91
- MetaSVM 0.90
- CADD 24.10
- PolyPhen-2 0.68
- SIFT 0.06
- Population evidence available
- Structural context available