T16L (p.Thr16Leu) variant of RYR2 (Ryanodine receptor 2)
T16L (p.Thr16Leu) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
T16L (p.Thr16Leu) variant details
- p.Thr16Leu
- gnomAD 1-237042565-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available