I28V (p.Ile28Val) variant of RYR2 (Ryanodine receptor 2)
I28V (p.Ile28Val) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- gnomAD 1-237270530-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.29
- MetaLR 0.73
- MetaSVM -0.05
- CADD 1.27
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available