E11E (p.Glu11Glu) variant of ALMS1 (Q8TCU4)
E11E (p.Glu11Glu) in ALMS1 (Q8TCU4) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
E11E (p.Glu11Glu) variant details
- p.Glu11Glu
- rs1217067369
- gnomAD 2-73385901-G-A
- Synonymous
- CADD 14.40
- Population evidence available
- Literature evidence available