T25I (p.Thr25Ile) variant of RYR2 (Ryanodine receptor 2)
T25I (p.Thr25Ile) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- gnomAD 1-237270522-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.50
- MetaLR 0.78
- MetaSVM 0.45
- CADD 16.90
- PolyPhen-2 0.10
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available