T27I (p.Thr27Ile) variant of RYR2 (Ryanodine receptor 2)
T27I (p.Thr27Ile) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T27I (p.Thr27Ile) variant details
- p.Thr27Ile
- gnomAD 1-237270528-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.85
- MetaLR 0.95
- MetaSVM 1.10
- CADD 24.30
- PolyPhen-2 0.92
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available