E18E (p.Glu18Glu) variant of ALMS1 (Q8TCU4)
E18E (p.Glu18Glu) in ALMS1 (Q8TCU4) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
E18E (p.Glu18Glu) variant details
- p.Glu18Glu
- rs1670509008
- gnomAD 2-73385922-G-A
- Synonymous
- CADD 7.15
- Population evidence available
- Literature evidence available