E17E (p.Glu17Glu) variant of ALMS1 (Q8TCU4)
E17E (p.Glu17Glu) in ALMS1 (Q8TCU4) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
E17E (p.Glu17Glu) variant details
- p.Glu17Glu
- rs1553396127
- gnomAD 2-73385919-G-A
- Synonymous
- CADD 11.40
- Population evidence available
- Literature evidence available