E6E (p.Glu6Glu) variant of RYR2 (Ryanodine receptor 2)
E6E (p.Glu6Glu) in RYR2 (Ryanodine receptor 2) is a synonymous 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.
E6E (p.Glu6Glu) variant details
- p.Glu6Glu
- gnomAD 1-237042539-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 12.40
- Population evidence available
- Structural context available
- Literature evidence available