E27E (p.Glu27Glu) variant of ALMS1 (Q8TCU4)
E27E (p.Glu27Glu) in ALMS1 (Q8TCU4) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
E27E (p.Glu27Glu) variant details
- p.Glu27Glu
- rs1223853236
- gnomAD 2-73385949-G-A
- Synonymous
- CADD 8.14
- Population evidence available
- Literature evidence available