E18E (p.Glu18Glu) variant of RYR1 (Ryanodine receptor 1)
E18E (p.Glu18Glu) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
E18E (p.Glu18Glu) variant details
- p.Glu18Glu
- rs1389217484
- gnomAD 19-38440753-G-A
- Synonymous
- CADD 6.26
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Literature evidence available