A2T (p.Ala2Thr) variant of RYR2 (Ryanodine receptor 2)
A2T (p.Ala2Thr) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 1-237042525-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.30
- MetaLR 0.77
- MetaSVM 0.30
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available