E7E (p.Glu7Glu) variant of RYR1 (Ryanodine receptor 1)
E7E (p.Glu7Glu) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
E7E (p.Glu7Glu) variant details
- p.Glu7Glu
- gnomAD 19-38433850-A-G
- Synonymous
- CADD 13.40
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Literature evidence available