E6E (p.Glu6Glu) variant of RYR3 (Ryanodine receptor 3)
E6E (p.Glu6Glu) in RYR3 (Ryanodine receptor 3) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
E6E (p.Glu6Glu) variant details
- p.Glu6Glu
- rs760060054
- gnomAD 15-33311063-A-G
- Synonymous
- CADD 17.60
- Most common in the Latino/Admixed American population (allele frequency 4.8e-05)
- Literature evidence available