E8E (p.Glu8Glu) variant of RYR2 (Ryanodine receptor 2)
E8E (p.Glu8Glu) in RYR2 (Ryanodine receptor 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E8E (p.Glu8Glu) variant details
- p.Glu8Glu
- gnomAD 1-237042545-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available