T27N (p.Thr27Asn) variant of RYR2 (Ryanodine receptor 2)
T27N (p.Thr27Asn) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T27N (p.Thr27Asn) variant details
- p.Thr27Asn
- gnomAD 1-237270528-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.61
- MetaLR 0.90
- MetaSVM 0.98
- CADD 22.70
- PolyPhen-2 0.77
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available