T16T (p.Thr16Thr) variant of RYR2 (Ryanodine receptor 2)
T16T (p.Thr16Thr) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T16T (p.Thr16Thr) variant details
- p.Thr16Thr
- gnomAD 1-237042569-T-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.198
- CADD 16.50
- Population evidence available
- Structural context available
- Literature evidence available