T16S (p.Thr16Ser) variant of RYR2 (Ryanodine receptor 2)
T16S (p.Thr16Ser) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
T16S (p.Thr16Ser) variant details
- p.Thr16Ser
- gnomAD 1-237042567-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.46
- MetaLR 0.86
- MetaSVM 0.71
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available