E6R (p.Glu6Arg) variant of RYR2 (Ryanodine receptor 2)
E6R (p.Glu6Arg) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E6R (p.Glu6Arg) variant details
- p.Glu6Arg
- gnomAD 1-237042530-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available