E6* (p.Glu6Ter) variant of RYR2 (Ryanodine receptor 2)
E6* (p.Glu6Ter) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E6* (p.Glu6Ter) variant details
- p.Glu6Ter
- TOPMed rs1367258371
- gnomAD rs1367258371
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 37.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available