A2A (p.Ala2Ala) variant of RYR2 (Ryanodine receptor 2)
A2A (p.Ala2Ala) in RYR2 (Ryanodine receptor 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 1-237042527-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available