T16I (p.Thr16Ile) variant of RYR2 (Ryanodine receptor 2)
T16I (p.Thr16Ile) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T16I (p.Thr16Ile) variant details
- p.Thr16Ile
- gnomAD 1-237042568-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.40
- MetaLR 0.83
- MetaSVM 0.42
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available