E10E (p.Glu10Glu) variant of RYR2 (Ryanodine receptor 2)
E10E (p.Glu10Glu) in RYR2 (Ryanodine receptor 2) is a synonymous 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.
E10E (p.Glu10Glu) variant details
- p.Glu10Glu
- gnomAD 1-237042551-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 13.10
- Population evidence available
- Structural context available
- Literature evidence available