T16N (p.Thr16Asn) variant of RYR2 (Ryanodine receptor 2)
T16N (p.Thr16Asn) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T16N (p.Thr16Asn) variant details
- p.Thr16Asn
- gnomAD 1-237042568-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.49
- MetaLR 0.89
- MetaSVM 0.72
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available