E5E (p.Glu5Glu) variant of RYR1 (Ryanodine receptor 1)
E5E (p.Glu5Glu) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
E5E (p.Glu5Glu) variant details
- p.Glu5Glu
- rs1972307572
- gnomAD 19-38433844-A-G
- Synonymous
- CADD 14.90
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Literature evidence available